Gene Summary

kinetochore-localized astrin/SPAG5 binding
1700025D04Rik,  D2Ertd750e

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
tremors Knstrntm1b(KOMP)Wtsi HOM Early adult 9.47×10-06
increased mean corpuscular volume Knstrntm1b(KOMP)Wtsi HOM Early adult 5.25×10-39
abnormal cornea morphology Knstrntm1b(KOMP)Wtsi HOM   Early adult 7.96×10-05
increased fasting circulating glucose level Knstrntm1b(KOMP)Wtsi HOM Early adult 9.00×10-05
increased mean corpuscular hemoglobin Knstrntm1b(KOMP)Wtsi HOM Early adult 1.36×10-38
abnormal seminal vesicle morphology Knstrntm1b(KOMP)Wtsi HOM Early adult 0.00
cornea ulcer Knstrntm1b(KOMP)Wtsi HOM   Early adult 6.90×10-05
thrombocytopenia Knstrntm1b(KOMP)Wtsi HOM Early adult 2.94×10-08
decreased erythrocyte cell number Knstrntm1b(KOMP)Wtsi HOM Early adult 9.45×10-15
decreased hematocrit Knstrntm1b(KOMP)Wtsi HOM Early adult 1.16×10-05

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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.


M-Mode Images

13 Images


XRay Images Whole Body Dorso Ventral

17 Images


XRay Images Whole Body Lateral Orientation

17 Images

Gross Pathology and Tissue Collection


1 Images

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

Disease Similarity of
Matching phenotypes Source
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Intention tremor, Decreased proportion of CD4-positive helper T cells, Ataxia, B lymphocytopenia,... ORPHA:221139
Roifman-Chitayat Syndrome

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

Disease Similarity of
Matching phenotypes Source
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Isochromosomy Yq
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... ORPHA:98798
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Testes, Rudimentary
Hypergonadotropic hypogonadism, Hypoplastic male external genitalia, Decreased testicular size OMIM:273150
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:205950
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:206100
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Spermatogenic Failure 4
Azoospermia OMIM:270960
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Phosphoglycerate Dehydrogenase Deficiency
Developmental cataract, Spastic tetraplegia, Megaloblastic anemia, Decreased testicular size, Thr... OMIM:601815
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Absence of puberta... OMIM:614840
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Azoospermia, Splenomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia... OMIM:615234
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Thrombocytopenia OMIM:209970
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Corneal perforation, Herpetiform corneal ulceration, Corneal stromal ede... ORPHA:137599
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Kennedy Disease
Erectile dysfunction, Decreased fertility, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Bilateral cryptorchidism, Abnormality of male interna... OMIM:261550
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Infertility, Type II diabetes mellitus OMIM:615703
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Neurotrophic Keratopathy
Corneal ulceration, Corneal perforation, Corneal scarring, Astigmatism, Corneal stromal edema, Di... ORPHA:137596
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia ORPHA:1980
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Infertility, Primary amenorrhea, Cryptorchidism, Micropenis, Decre... OMIM:146110
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... ORPHA:3202
Spastic Paraparesis And Deafness
Cataract, Spastic paraparesis, Hypogonadism, Tremor OMIM:312910
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Micropenis, Cryptorchidism, Azoospermia, Decreased testicular size OMIM:614897
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Corneal Dystrophy, Lattice Type Iiia
Lattice corneal dystrophy, Corneal erosion OMIM:608471
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Cataract, Spasticity, Iris hypopigmentation, Thrombocytopenia ORPHA:67048
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Amegakaryocytic thrombocytopenia, Thrombocytopenia OMIM:604498
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis ORPHA:90044
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Cryptorchidi... OMIM:300200
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Spastic paraplegia OMIM:601608
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Ataxia-Pancytopenia Syndrome
Pancytopenia, Dysmetria, Hypoplastic anemia, Ataxia, Neutropenia, Anemia, Babinski sign, Thromboc... OMIM:159550
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Thrombocytopenia OMIM:133180
Optic Atrophy 2
Babinski sign, Tremor, Dysdiadochokinesis OMIM:311050
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal ulceration, Corneal scarring OMIM:616488
Corneal Hypesthesia, Familial
Recurrent corneal erosions OMIM:122450
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:615285
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Poikilo... ORPHA:98870
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Aicardi-Goutieres Syndrome 6
Rigidity, Hemolytic anemia, Dystonia, Tremor OMIM:615010
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Cryptorchidism, Anisocytosis, Anemia of inadequate pro... ORPHA:67044
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Action tremor, Intention tremor, Gait ataxia, Postural tremor, Thrombocytopenia, Myoclonus OMIM:254900
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Corneal ulceration, Hypoglycemia, Leukocytosis, Urethritis, Conjunctivitis, Microangiopathic hemo... ORPHA:810
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Thyrocerebrorenal Syndrome
Euthyroid goiter, Myoclonus, Nonprogressive cerebellar ataxia, Thrombocytopenia, Slurred speech ORPHA:3327
Young Syndrome
Azoospermia OMIM:279000
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Opacification of the cor... ORPHA:98960
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal ulceration, Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent c... OMIM:256800
Refractory Anemia
Normocytic anemia, Neutropenia, Macrocytic anemia, Normochromic anemia, Anemia of inadequate prod... ORPHA:98826
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Ataxia, Reticulocytosis, Tremor OMIM:612126
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Intention tremor, Splenomegaly, Anemia, Hypersplenism, Thrombocytopenia, Myoclonus OMIM:610539
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
Optic Atrophy 3, Autosomal Dominant
Cataract, Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Splenomegaly, Anemia, Erythroid hyperplasia, Type II diabetes m... OMIM:616860
Pontocerebellar Hypoplasia, Type 15
Dystonia, Spastic tetraplegia, Chronic neutropenia, Anemia, Thrombocytopenia, Hypertonia OMIM:619302
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume, Dystonia, Spastic ataxia OMIM:277410
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Agel Amyloidosis
Corneal ulceration, Cataract, Ataxia, Abnormal spleen morphology, Keratoconjunctivitis sicca, Lat... ORPHA:85448
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Perineal hypospadias, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia, ma... ORPHA:753
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Abnormality of extrapyramidal ... OMIM:614561
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Increased serum testosterone level, Oligospe... ORPHA:8
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Spasticity, Thrombocytopenia, Dystonia OMIM:610329
Thyrocerebroretinal Syndrome
Slurred speech, Ataxia, Goiter, Thrombocytopenia, Myoclonus OMIM:274240
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadism, Decreased testicular size OMIM:616030
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Cholelithiasis, Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, H... ORPHA:846
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Fanconi Anemia, Complementation Group T
Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Chorea, Genital ulcers, Lymphopenia OMIM:616744
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Corneal ulceration, Dysmetria, Ataxia, Acanthocytosis, Gait ataxia, Anemia, Upper motor neuron dy... ORPHA:14
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Decreased mean corpuscular volume, ... OMIM:609628
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Sideroblastic anemia, Intention tremor, Clonus, Nonprogressive cerebellar ataxia, Dysd... OMIM:301310
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Increased mean corpuscular volume, Astigmatism, Thrombocytopenia ORPHA:261250
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Cryptorchidism, Male pseudohermaphrod... ORPHA:752
Pontocerebellar Hypoplasia, Type 14
Dystonia, Spastic tetraplegia, Chronic neutropenia, Thrombocytopenia, Hypertonia OMIM:619301
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced platelet a... OMIM:173590
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor OMIM:617018
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Congenital Rubella Syndrome
Cataract, Corneal opacity, Splenomegaly, Anemia, Aplasia/Hypoplasia of the iris, Thrombocytopenia... ORPHA:290
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Methylcobalamin Deficiency Type Cble
Pancytopenia, Neutropenia, Lower limb hypertonia, Increased mean corpuscular volume, Macrocytic a... ORPHA:2169
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Neutropenia, Anemia, Hydrocele testis, Congenital thrombocytopenia OMIM:616738
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Corneal ulceration, Corneal scarring, Keratoconjunctivitis sicca, Recurrent corneal erosions, Abn... OMIM:148210
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Conjunctivitis OMIM:603552
Myotonic Dystrophy 2
Oligospermia, Elevated circulating follicle stimulating hormone level, Diabetes mellitus, Hypogon... OMIM:602668
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Ataxia, Tremor OMIM:611105
Lymphedema-Distichiasis Syndrome
Corneal ulceration, Recurrent corneal erosions, Conjunctivitis OMIM:153400
Congenital Disorder Of Deglycosylation 1
Corneal ulceration, Dysmetria, Action tremor, Involuntary movements, Corneal opacity, Athetosis, ... OMIM:615273
Anemia, Thrombocytopenia ORPHA:673
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Diabetes mellitus, Thrombocytopenia OMIM:598500
Wt Limb-Blood Syndrome
Pancytopenia, Leukemia, Hypoplastic anemia, Cryptorchidism, Thrombocytopenia OMIM:194350
Tremor OMIM:231950
Congenital Erythropoietic Porphyria
Corneal ulceration, Leukopenia, Anisocytosis, Splenomegaly, Erythroid hyperplasia, Hemolytic anem... ORPHA:79277
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Ataxia, Spasticity, Premature ovarian insufficiency, Tremor OMIM:615889
Blackfan-Diamond Anemia
Developmental cataract, Leukopenia, Developmental glaucoma, Thrombocytosis, Erythroid hypoplasia,... ORPHA:124
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia, Conjunctivitis OMIM:616740
Sebastian syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:605249
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size OMIM:614858
Methemoglobinemia And Ambiguous Genitalia
Micropenis, Male pseudohermaphroditism, Bifid scrotum, Ambiguous genitalia, Methemoglobinemia, Hy... OMIM:250790
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Methemoglobinemia, Opisthotonus, Polycythemia OMIM:250800
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of thrombocytes ORPHA:721
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Amoebiasis Due To Free-Living Amoebae
Corneal ulceration, Corneal perforation, Ataxia, Increased red blood cell count, Hemiparesis, Con... ORPHA:68
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Cryptorchidism, Ataxia, Thiamine-responsive megaloblastic anemia, Diabetes ... OMIM:249270
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Choreoathetosis, Neutropenia, Anemia, Chorea, Hemiplegia/hemiparesis, Thrombocytopenia ORPHA:289916
Hermansky-Pudlak Syndrome 9
Leukopenia, Thrombocytopenia, Ocular albinism OMIM:614171
Sengers Syndrome
Developmental cataract, Thrombocytopenia OMIM:212350
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Fechtner syndrome
Developmental cataract, Leukocyte inclusion bodies, Giant platelets, Neutrophil inclusion bodies,... OMIM:153640
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Eyelid myoclonus, Megaloblastic anemia, Ataxia, Thrombocytopenia OMIM:613839
Niemann-Pick Disease, Type B
Splenomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
Recessive Dystrophic Epidermolysis Bullosa Inversa
Anemia, Vaginal stricture, Corneal erosion, Urethral stricture ORPHA:79409
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Panhypopituitarism, Anterior hypopituitarism, Increased circulating prolactin concent... ORPHA:91351
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... OMIM:607317
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Azoospermia, Anemia, Anisopoikilocytosis, Dysplastic erythropoesis, Reticuloc... ORPHA:300298
Cockayne Syndrome
Corneal ulceration, Band keratopathy, Lentiglobus, Action tremor, Developmental cataract, Abnorma... ORPHA:191
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Vitamin B12-Unresponsive Methylmalonic Acidemia
Tetraparesis, Leukopenia, Choreoathetosis, Ataxia, Paraparesis, Anemia, Macrocytic anemia, Thromb... ORPHA:27
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central corneal dystrophy, Corneal crystals, Central opacificati... ORPHA:98962
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal opacity, Corneal erosion, Corneal dystrophy OMIM:608470
Epithelial Recurrent Erosion Dystrophy
Corneal erosion OMIM:122400
Folate Malabsorption, Hereditary
Leukopenia, Athetosis, Ataxia, Folate-responsive megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:229050
Goldberg-Shprintzen Syndrome
Corneal ulceration, Megalocornea, Corneal erosion OMIM:609460
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Incoordination, Recurrent corneal erosions, Corneal ulceration OMIM:223900
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Shwachman-Diamond Syndrome
Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Impaired neutrophil chemotaxis, Hypopituit... ORPHA:811
Hepatoerythropoietic Porphyria
Corneal ulceration, Splenomegaly, Hemolytic anemia, Erythroid hyperplasia, Keratoconjunctivitis ORPHA:95159
Spinocerebellar Ataxia Type 20
Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention tremor, Bradykinesia, Ataxia... ORPHA:101110
Cholelithiasis, Microcytic anemia, Hypogonadotropic hypogonadism, Splenomegaly, Anemia, Abnormal ... ORPHA:848
Hemochromatosis, Type 2A
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Infertility OMIM:602390
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia, Myoclonus OMIM:614946
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume OMIM:611590
Refractory Anemia With Excess Blasts
Leukocytosis, Acute myeloid leukemia, Abnormal mean corpuscular volume, Anemia of inadequate prod... ORPHA:86839
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Gaucher Disease, Type Iii
Pancytopenia, Spastic paraparesis, Splenomegaly, Ataxia, Thrombocytopenia, Myoclonus OMIM:231000
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Gaucher Disease, Type Ii
Splenomegaly, Anemia, Rigidity, Spasticity, Oculomotor apraxia, Thrombocytopenia OMIM:230900
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Abnormality of the endometrium, Corneal ulceration, Urethritis, Prostatitis, Abnormality of the p... ORPHA:2552
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Ataxia, Testicular atrophy, Diabetes mellitus, Thromb... OMIM:222300
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Postural ... OMIM:128230
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Recurrent corneal erosions OMIM:148800
Cryptorchidism, Small scrotum, Thrombocytopenia, Micropenis ORPHA:370924
Diamond-Blackfan Anemia 7
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612562
Beta-Thalassemia Intermedia
Cholelithiasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased HbA2 hemoglobin, Hypopa... ORPHA:231222
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cryptorchidism, Tremor, Anemia, Type I diabetes mellitus, Hypertonia ORPHA:1192
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:155100
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Thrombocytopenia, Anemia ORPHA:2123
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Decreased hemoglobin conc... OMIM:613673
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Tyrosinemia, Type Ii
Herpetiform corneal ulceration OMIM:276600
Cockayne Syndrome Type 3
Corneal ulceration, Lentiglobus, Intention tremor, Microcornea, Cataract, Splenomegaly, Keratocon... ORPHA:90324
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... ORPHA:216873
Spinocerebellar Ataxia 37
Frequent falls, Ataxia, Tremor OMIM:615945
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Elevated hemoglobin A1c, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Small scrotum, Thrombocytopenia, Micropenis OMIM:615597
Bartsocas-Papas Syndrome 1
Corneal ulceration, Hypoplastic labia majora, Pterygium, Popliteal pterygium, Micropenis, Absent ... OMIM:263650
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Dystonia, Splenomegaly, Spasticity, Thrombocytopenia OMIM:610333
Spinocerebellar Ataxia, Autosomal Recessive 16
Ankle clonus, Spasticity, Limb ataxia, Truncal ataxia, Babinski sign, Hypogonadism, Tremor OMIM:615768
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Spasticity, Ataxia, Tremor OMIM:614307
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism, Cryptorchidism, Azoosperm... ORPHA:432
Generalized Glucocorticoid Resistance Syndrome
Infertility, Adrenal hyperplasia, Oligomenorrhea, Increased urinary cortisol level, Oligospermia,... ORPHA:786
Xeroderma Pigmentosum, Complementation Group G
Cataract, Spasticity, Ataxia, Tremor OMIM:278780
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia OMIM:617021
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Poikilocytosis, Acanthocytosis OMIM:300367
Transaldolase Deficiency
Abnormality of the clitoris, Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:101028
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Chorea, Tremor ORPHA:494526
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Thrombocytopenia OMIM:613101
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Amed Syndrome, Digenic
Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypoplasia of the uterus OMIM:619151
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia, Lower limb spasticity... ORPHA:251282
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia OMIM:617243
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Cataract, Tremor, Neutropenia, Hypertonia OMIM:617248
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Choreoathetosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:79312
Transcobalamin Deficiency
Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Aicardi-Goutieres Syndrome 7
Spastic tetraparesis, Thrombocytopenia, Dystonia, Splenomegaly OMIM:615846
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus OMIM:618858
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus ORPHA:49827
Corneal ulceration, Corneal perforation, Iritis, Abnormality of the spleen, Testicular mass ORPHA:548
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Aplasia/hypoplasia of the uterus, Bicornuate uterus ORPHA:2578
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Ramos-Arroyo Syndrome
Corneal ulceration, Keratitis ORPHA:1051
Migraine, Familial Hemiplegic, 1
Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Corneal Dystrophy, Meesmann, 2
Recurrent corneal erosions OMIM:618767
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Hypoplasia of the iris OMIM:612783
Sjögren-Larsson Syndrome
Corneal erosion, Abnormal pyramidal sign, Spasticity, Spastic diplegia ORPHA:816
Rhabdoid Tumor
Anemia, Hemiplegia, Thrombocytopenia, Cerebral palsy ORPHA:69077
Thrombocytopenia, Type I diabetes mellitus, Polycystic ovaries ORPHA:275555
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Myh9-Related Disease
Giant platelets, Presenile cataracts, Neutrophil inclusion bodies, Congenital thrombocytopenia, I... ORPHA:182050
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Bone Marrow Failure Syndrome 4
Anemia, Leukopenia, Thrombocytopenia OMIM:618116
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Corneal crystals, Central opacificat... ORPHA:98963
Cataract-Ataxia-Deafness Syndrome
Developmental cataract, Tremor, Ataxia, Hypertonia ORPHA:1368
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Rigidity, Spasticity, Tremor OMIM:615528
Combined Oxidative Phosphorylation Deficiency 18
Dysmetria, Tremor, Macrocytic anemia OMIM:615578
Alport Syndrome 1, X-Linked
Developmental cataract, Lenticonus, Anterior lenticonus, Corneal erosion, Hypoparathyroidism, Thr... OMIM:301050
Hypermanganesemia With Dystonia 1
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Rigidity, Poor fine motor coordination... OMIM:613280
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Tremor OMIM:615362
Myotonic Dystrophy 1
Cholelithiasis, Hypogonadism, Testicular atrophy OMIM:160900
Aicardi-Goutieres Syndrome 5
Spasticity, Thrombocytopenia OMIM:612952
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Subepithelial corneal opacities, Corneal dystrophy, Corneal scarring, Kera... ORPHA:293381
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor OMIM:616187
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Myoclonus, Tremor OMIM:615924
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Abnormal salivary gland morphology, Increased corneal thickness, Cryptorchidi... ORPHA:2363
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:168100
Neutropenia, Giant platelets, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Hypopituitarism, Anisocy... ORPHA:231226
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Postural tremor, Rigidity, Babinski sign, Parkinsonism with favorable res... ORPHA:314632
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Splenomegaly, Ataxia, Gait ataxia, Spasticity, Tremor OMIM:616719
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Delayed puberty, Hypergonadotropic hypogonadism ORPHA:90646
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Parkinsonism, Dystonia, Oromandibular dystonia, Bradykinesia, Scissor gait, Spastic... ORPHA:521406
Gabriele-De Vries Syndrome
Cryptorchidism, Dystonia, Tremor OMIM:617557
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Tremor, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia, Ankl... OMIM:270500
Hereditary Sensory And Autonomic Neuropathy Type 4
Corneal ulceration, Anemia, Corneal scarring, Aplasia of the sweat glands ORPHA:642
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Oromandibular dys... OMIM:613135
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... ORPHA:240103
+173470 integrin, beta-3
Neonatal alloimmune thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Post-transfusion ... OMIM:173470
Lig4 Syndrome
Cryptorchidism, Pancytopenia, Thrombocytopenia, Micropenis OMIM:606593
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Myoclonus, Hypertonia OMIM:261630
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Hypopituitarism, Splenom... ORPHA:231214
Classic Galactosemia
Incoordination, Action tremor, Dystonia, Hypoglycemia, Cryptorchidism, Cataract, Ataxia, Speech a... ORPHA:79239
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Juvenile cataract, Spastic gait, Dystonia, Resting tremor, Parkinsonism, Choreoathetosis, Apraxia... OMIM:300055
Urocanase Deficiency
Blue irides, Ataxia, Tremor OMIM:276880
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Prostat... ORPHA:158057
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormon... ORPHA:280679
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Thrombocytopenia, Refractory anemia OMIM:231095
Ciliary Dyskinesia, Primary, 40
Azoospermia, Absent outer dynein arms, Infertility, Patent ductus arteriosus OMIM:618300
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Spastic tetraplegia, Head titubation, Thrombocytopenia, Hypochromic microcy... ORPHA:3240
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, Elevated circulating luteinizing hormone level, True hermaphroditism, Ele... OMIM:400045
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute myeloid leukemia, Abnormal dense granule content, Acute mono... OMIM:601399
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:600116
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Leukocytosis, Goiter, Thrombocytopenia, Myoclonus ORPHA:83601
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Myoclonus, Tremor OMIM:608105
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
Congenital Toxoplasmosis
Anemia, Thrombocytopenia ORPHA:858
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Leukopenia, Thrombocytopenia, Hemolytic anemia, Splenomegaly ORPHA:108
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Rigidity, Spasticity, Clumsiness, Tremor OMIM:612953
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Dystonia, Anisocytosis, Tetraplegia, Chronic hemolytic anemia, ... OMIM:618278
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Corticobasal Syndrome
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Limb apraxia, Limb dystonia, Speech ... ORPHA:454887
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Ataxia, Hemolytic anemia, Reticulocytosis, Decreased hemoglobin concentration, Tremor ORPHA:713
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Mirage Syndrome
Hypoplastic spleen, Hypoglycemia, Leukopenia, Cryptorchidism, Shawl scrotum, Anemia, Paraplegia, ... OMIM:617053
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Anemia, Neutropenia, Thrombocytopenia OMIM:614857
Polycystic ovaries, Ataxia, Spasticity, Diabetes mellitus, Type II diabetes mellitus, Abnormal te... ORPHA:100
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Dysdiadochokinesis, Limb dysmetria, Truncal ataxia, Myoclonus, Tremor ORPHA:363710
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Ataxia, Neutropenia, Anemi... OMIM:214500
Systemic Lupus Erythematosus
Leukopenia, Thrombocytopenia, Hemolytic anemia OMIM:152700
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia ORPHA:507
Isolated Agammaglobulinemia
Abnormality of neutrophils, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia ORPHA:229717
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Ataxia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia OMIM:603585
Wilson Disease
Kayser-Fleischer ring, Splenomegaly, Anemia, Clumsiness, Thrombocytopenia ORPHA:905
Omenn Syndrome
Eosinophilia, Splenomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Hypoplasia of th... OMIM:603554
Hereditary Methemoglobinemia
Spastic tetraplegia, Athetosis, Limb dystonia, Spasticity, Methemoglobinemia, Hypertonia ORPHA:621
Spinocerebellar Ataxia 18
Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia OMIM:618048
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Lymphoproliferative Syndrome 1