Gene Summary

Name:
spermatid perinuclear RNA binding protein
Synonyms:
C230082I21Rik,  Spnr,  6430510M02Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased thigmotaxis Strbpem1(IMPC)Hmgu HOM   Early adult 1.13×10-05
hyperactivity Strbpem1(IMPC)Hmgu HOM   Early adult 2.24×10-14
abnormal locomotor behavior Strbpem1(IMPC)Hmgu HOM Early adult 1.34×10-05
abnormal gait Strbpem1(IMPC)Hmgu HOM Early adult 1.91×10-13
decreased circulating serum albumin level Strbpem1(IMPC)Hmgu HOM   Early adult 7.83×10-06
abnormal bone structure Strbpem1(IMPC)Hmgu HOM   Early adult 8.10×10-06
abnormal startle reflex Strbpem1(IMPC)Hmgu HOM Early adult 1.22×10-05
decreased anxiety-related response Strbpem1(IMPC)Hmgu HOM Early adult 1.38×10-06
decreased respiratory quotient Strbpem1(IMPC)Hmgu HOM Early adult 1.09×10-12
increased mean platelet volume Strbpem1(IMPC)Hmgu HOM Early adult 1.12×10-08
trunk curl Strbpem1(IMPC)Hmgu HOM Early adult 2.44×10-07
decreased circulating total protein level Strbpem1(IMPC)Hmgu HOM   Early adult 5.06×10-06
abnormal behavior Strbpem1(IMPC)Hmgu HOM Early adult 5.75×10-09
decreased vertical activity Strbpem1(IMPC)Hmgu HOM Early adult 1.85×10-15
decreased food intake Strbpem1(IMPC)Hmgu HOM Early adult 5.70×10-05
decreased startle reflex Strbpem1(IMPC)Hmgu HOM Early adult 2.23×10-09
increased mean corpuscular volume Strbpem1(IMPC)Hmgu HOM Early adult 1.15×10-07
decreased prepulse inhibition Strbpem1(IMPC)Hmgu HOM   Early adult 1.31×10-11

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Human diseases caused by Strbp 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Dystonia 31
Arm dystonia, Dysphagia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized d... OMIM:619565
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... ORPHA:98797
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Aggressive behavior, Ab... ORPHA:247585
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... OMIM:267700
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Male infertility, Gonadal tissue inappropriate for ... ORPHA:98798
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size OMIM:229070
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia OMIM:607250
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty ORPHA:3000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Leukopenia, Anemia, Increased total bilirubin, Splenomegaly, Incre... OMIM:603553
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Type II diabetes mellitus, Azoospermia, Obesity OMIM:615703
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia ORPHA:94124
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... ORPHA:261529
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Refractory Celiac Disease
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Osteoporosis, Hypo... ORPHA:398063
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Tremor, Hypercholesterolemia, Ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia, Gai... OMIM:208920
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Dystonia, Dysphagia, Gait imbalance, Elevated circulating creatine kinase concen... ORPHA:64753
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, Impaired arach... OMIM:619271
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Hypomethioninemia, Dystonia, Methylmalonic acidemia, Increased mean corpuscu... OMIM:277410
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Dengue Fever
Hypoproteinemia, Thrombocytopenia, Leukopenia, Lethargy ORPHA:99828
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... OMIM:616689
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Increased mean corpuscula... ORPHA:2169
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Broad-based gait, Hypoalbuminemia OMIM:618805
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Omenn Syndrome
B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymp... OMIM:603554
47,Xyy Syndrome
Oligospermia, Hypospadias, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... ORPHA:8
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Rapid-Onset Dystonia-Parkinsonism
Dysphagia, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional lability, ... ORPHA:71517
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Poikilocytosis, ... OMIM:615234
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Hypoproteinemia, Aggressive behavior OMIM:608093
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Adrenal Hypoplasia, Congenital
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Failur... OMIM:300200
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Chédiak-Higashi Syndrome
Neutropenia, Abnormal platelet function, Splenomegaly, Increased circulating ferritin concentrati... ORPHA:167
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Glycine Encephalopathy
Aggressive behavior, Hyperglycinemia, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... ORPHA:98870
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating ferritin concentra... OMIM:616050
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... OMIM:616000
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Rickets, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hem... OMIM:611590
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Tremor, Hyperactivit... ORPHA:3077
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Hypoproteinemia, Hypoalbuminemia OMIM:226300
Slc35A1-Cdg
Hypoxemia, Neutropenia, Abnormal platelet granules, Giant platelets, Thrombocytopenia ORPHA:238459
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Osteopenia OMIM:608747
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Dystonia 1, Torsion, Autosomal Dominant
Writer's cramp, Torticollis, Blepharospasm, Tremor, Torsion dystonia, Abnormal posturing, Depression OMIM:128100
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Histiocy... OMIM:209950
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... ORPHA:182050
Classic Pantothenate Kinase-Associated Neurodegeneration
Gait disturbance, Dysphagia, Opisthotonus, Inability to walk, Generalized dystonia, Tip-toe gait,... ORPHA:216866
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Alg6-Cdg
Decreased LDL cholesterol concentration, Ataxia, Hypoalbuminemia ORPHA:79320
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... OMIM:210250
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Reduced sperm motility, Abnormal sperm head morphology, H... ORPHA:320391
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Hypoalbuminemia ORPHA:88643
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperphenylalaninemia, Attention deficit hyperactivity diso... OMIM:261600
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Anemia, Hypocalcemia, Reduced proportion of CD4+ effector memory T cells, Decrea... ORPHA:90362
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Mohr-Tranebjaerg Syndrome
Tremor, Dystonia, Dysphagia, Abnormal posturing OMIM:304700
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Osteopenia, ... OMIM:618849
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Hyperactivity, Ataxia, Hypertriglyceridemia OMIM:615924
Fechtner syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:153640
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Intellectual Developmental Disorder, X-Linked 104
Tremor, Hyperactivity, Aggressive behavior, Ataxia OMIM:300983
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Hyperactivity, Aggressive behavior, Broad-based gait OMIM:619470
Leishmaniasis
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, ... ORPHA:507
Sporadic Infantile Bilateral Striatal Necrosis
Inappropriate crying, Gait disturbance, Dystonia, Dysphagia, Bradykinesia, Resting tremor, Tituba... ORPHA:225147
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Tremor, Hyperactivity, Ataxia, Transient hyperphenylalaninemia OMIM:612716
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Anemia, Hypoalbuminemia OMIM:608104
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration, Increased circulating free f... ORPHA:26793
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ataxia, Broad... ORPHA:248111
Stiff Person Spectrum Disorder
Agoraphobia, Falls, Exaggerated startle response, Emotional lability, Anxiety, Difficulty walking ORPHA:3198
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... ORPHA:90044
Eosinophilic Gastroenteritis
Leukocytosis, Dysphagia, Anemia, Hypoalbuminemia, Eosinophilia, Elevated circulating C-reactive p... ORPHA:2070
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... ORPHA:158061
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Anemia, Hyperammonemia, Abnormal macrophage morphology, Ir... ORPHA:292
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Anemia, Thrombocytopenia, Abnormal post... OMIM:614857
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Ataxia, Lymphopenia, Hypertriglyceridemia OMIM:617575
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... OMIM:169400
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Splenomegaly, In... OMIM:616860
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Aicardi-Goutieres Syndrome 9
Dystonia, Self-mutilation, Anemia, Osteoporosis, Hepatosplenomegaly, Irritability, Hypoalbuminemi... OMIM:619487
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Micropenis, Primary amenorrhea, Cryptorchidism, Decreased testicular size OMIM:614897
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Tremor, Decreased fertility OMIM:313200
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity ORPHA:100973
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration... ORPHA:158048
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Anxiety, Aggressive behavior, Gait ataxia OMIM:609425
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Abnormal circulating albumin concentration, Acute... ORPHA:86839
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... OMIM:228300
Huntington Disease-Like 1
Gait disturbance, Dysmetria, Bradykinesia, Abnormal posturing, Gait ataxia, Depression ORPHA:157941
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Acanthocytosis, Decreased LDL cholesterol concentration,... ORPHA:14
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume, Ataxia OMIM:616737
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... ORPHA:811
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Polyphagia, Inappropriate laughter, Ataxia, Hyperactivity, Broad-based gait ORPHA:411515
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Lymphocyto... ORPHA:1667
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Leukopenia, Anemia, Splenomegaly, Inability to walk, Hypoalbuminemia, Thrombocytopenia OMIM:617303
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Tremor, Hyperactivity, Inability to walk OMIM:618718
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Johanson-Blizzard Syndrome
Hypoproteinemia, Anemia ORPHA:2315
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Osteoporosis, Osteopenia OMIM:612562
Leukoencephalopathy With Dystonia And Motor Neuropathy
Head tremor, Hypergonadotropic hypogonadism, Intention tremor, Azoospermia OMIM:613724
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, Falls, Personality disorder ORPHA:2382
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia OMIM:246700
Gm2 Gangliosidosis, Ab Variant
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Exaggerated startle res... ORPHA:309246
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Hyperactivity, Emotional lability, Impulsivity, Anxiety, Atte... ORPHA:98818
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia, Splenomegaly OMIM:235255
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Elevated circulating gamma-aminobuty... OMIM:271980
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Cln5 Disease
Dysmetria, Aggressive behavior, Tremor, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ata... ORPHA:228360
Hepatoportal Sclerosis
Leukopenia, Anemia, Hyperbilirubinemia, Splenomegaly, Hypersplenism, Hypoalbuminemia, Thrombocyto... ORPHA:64743
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Dystonia, Anisocytosis, Irritability, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, ... OMIM:618278
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hypocholesterolemia, Osteopenia, Ataxia, Hypoalbuminemia OMIM:212065
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... ORPHA:540
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Ataxia, Unsteady gait, Inc... OMIM:619405
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Decreased circulating osteocalcin level, Infertility, Sm... ORPHA:330015
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia, Anemia OMIM:238700
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Dysphagia, Increased mean corpuscular volume ORPHA:261250
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Abnormal circulating cholest... OMIM:607330
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Myotonic Dystrophy 2
Oligospermia, Hypogonadism, Elevated circulating follicle stimulating hormone level, Diabetes mel... OMIM:602668
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dysphagia, Decreased serum zinc, Anemia, Decreased serum iron, Abnormal circulating selenium conc... ORPHA:89842
Trichohepatoenteric Syndrome 1
Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo... OMIM:222470
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Avian Influenza
Hypoxemia, Leukopenia, Elevated circulating creatine kinase concentration, Lymphopenia, Hypoalbum... ORPHA:454836
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased testicular size, Elevated circulating f... OMIM:618086
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Premature Ovarian Failure 10
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... OMIM:612885
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Elevated hepatic iro... ORPHA:300298
Androgen Insensitivity, Partial
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... OMIM:312300
Normosmic Congenital Hypogonadotropic Hypogonadism
Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absence of pubertal development... ORPHA:432
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Abnormal eating behavior, Hyperactivity, Impulsivity, Anxiety ORPHA:101039
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Dysphagia, Aggressive behavior, Hyperactivity, Inability to walk, Impulsivity, Gait ataxia ORPHA:500180
Beta-Thalassemia Intermedia
Leukocytosis, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepatic iron conce... ORPHA:231222
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Hypoalbuminemia ORPHA:656
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hepatosplenomegaly, Hypocalcemia, Splenomegaly ORPHA:1655
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Increased circulating prolactin concentration, Enlarged pituitary gland, Oligomenor... ORPHA:91351
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... ORPHA:247598
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis, Hypoalbuminemia OMIM:614441
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly OMIM:251880
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression OMIM:619467
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm OMIM:614874
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability, Abnormal cortical bone morphology OMIM:300831
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... OMIM:609628
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Depression, Impulsivity ORPHA:88616
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Osteoporosis, Persistence of hemo... ORPHA:231226
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Beta-Thalassemia Major
Abnormality of iron homeostasis, Anisopoikilocytosis, Hypochromic microcytic anemia, Osteoporosis... ORPHA:231214
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Gaisböck Syndrome
Hyperproteinemia, Increased red blood cell count, Increased circulating renin level, Hyperuricemi... ORPHA:90041
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior OMIM:618342
Spermatogenic Failure 4
Recurrent spontaneous abortion, Azoospermia OMIM:270960
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm OMIM:612650
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Male infertility, Abnormal axon... OMIM:613807
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, Unste... ORPHA:485350
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Hyperphosphatasia With Mental Retardation Syndrome 6
Elevated circulating creatine kinase concentration, Hyperactivity, Aggressive behavior, Osteopenia OMIM:616809
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... ORPHA:88618
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait OMIM:617865
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior OMIM:617773
Stiff-Person Syndrome
Opisthotonus, Agoraphobia, Anemia, Exaggerated startle response, Anxiety, Depression OMIM:184850
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Coronal craniosynostosis, Hyperactivity, Hypoalbuminemia OMIM:235510
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Anemia, Hepatosplenomegaly, Inability to walk, Hypoalbuminemia, Thrombocytopenia ORPHA:505248
Tay-Sachs Disease
Gait disturbance, Dystonia, Dysphagia, Dysmetria, Exaggerated startle response, Laryngeal dystoni... ORPHA:845
Al Amyloidosis
Dysphagia, Anemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Hypoalbumi... ORPHA:85443
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability ORPHA:251383
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability, Polyphagia OMIM:275000
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Torticollis, Limb tremor, Exaggerated startle response, Emotional lability, Irritabili... OMIM:608643
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Myopathy With Extrapyramidal Signs
Leukocytosis, Dystonia, Elevated circulating creatine kinase concentration, Hypervalinemia, Extre... OMIM:615673
Generalized Glucocorticoid Resistance Syndrome
Oligospermia, Adrenal hyperplasia, Decreased circulating aldosterone level, Infertility, Oligomen... ORPHA:786
Syndromic Diarrhea
Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet volume, Hypoplasia of th... ORPHA:84064
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... ORPHA:274
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior, Hyperactivity OMIM:301013
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Perisylvian polymicrogyria, Hypoplasia of the pons, Anterior hypopi... ORPHA:280195
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait ORPHA:457260
Marburg Hemorrhagic Fever
Hyperamylasemia, Leukopenia, Hypokalemia, Neutrophilia in presence of infection, Elevated circula... ORPHA:99826
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Weight loss, Hypogonadism, Abnormal testis morphology, Primary testicular failure, ... ORPHA:85450
Hepatocellular Carcinoma
Thrombocytosis, Hyponatremia, Hypercalcemia, Hypokalemia, Polycythemia, Anemia, Hyperbilirubinemi... ORPHA:88673
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Elevated circulating creatine kinase concentration, Elevat... ORPHA:36234
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Early-Onset Schizophrenia
Unhappy demeanor, Polyphagia, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotio... ORPHA:96369
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Ir... ORPHA:37042
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Eisenmenger Syndrome
Hypoxemia, Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency anem... ORPHA:97214
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Dysphagia, Happy demeanor, Gait imbalance, Inappropriate laughter, Abnormal eating behavior, Trem... ORPHA:98794
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... ORPHA:90791
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Decreased platelet glycoprotein Ib, Ataxia, Thrombocytopenia, Macrothrombocytopenia OMIM:603585
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Hyperactivity, Ataxia, Hypertriglyceridemia, Gait ataxia, Limb dystonia ORPHA:363400
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:614935
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Anemia, Hypoalbuminemia ORPHA:67
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysphagia, Dysmetria, Bradykinesia, Intention tremor, Hyperactivity, Emotional lability... OMIM:610217
Hemochromatosis, Type 1
Testicular atrophy, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Diabetes mellitus, Im... OMIM:235200
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, El... OMIM:616959
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Alg12-Cdg
B lymphocytopenia, Hyponatremia, Hypocholesterolemia, Hypoalbuminemia, Abnormal bone ossification... ORPHA:79324
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Hypoalbuminemia ORPHA:367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response, Ataxia, Broad-based gait, Anxiety ORPHA:438216
Pediatric-Onset Graves Disease
Mood swings, Polyphagia, Neutropenia in presence of anti-neutropil antibodies, Polydipsia, Cranio... ORPHA:525731
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Anxiety, Aggressive behavior OMIM:300558
Rasmussen Subacute Encephalitis
Hemidystonia, Hyperactivity, Inability to walk, Emotional lability, Irritability, Attention defic... ORPHA:1929
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Adenylosuccinase Deficiency
Opisthotonus, Happy demeanor, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyper... OMIM:103050
Myoclonic-Astatic Epilepsy
Tremor, Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Abnormal ... ORPHA:1942
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Polyphagia, Self-injurious behavior, Hyperactivity, Ataxia ORPHA:228402
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Choking episodes, Hyperactivity, Ataxia, Emotional lability, Impulsiv... ORPHA:35069
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Aggressive behavior, Tremor, Hyperactivity, Gait ataxia OMIM:300354
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Anemia, Splenomeg... ORPHA:29073
Galloway-Mowat Syndrome 1
Dystonia, Ataxia, Hypoalbuminemia OMIM:251300
Gm2-Gangliosidosis, Ab Variant
Dystonia, Apathy, Exaggerated startle response OMIM:272750
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting OMIM:618314
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Gapo Syndrome
Oligospermia, Dysmenorrhea, Hypogonadism, Amenorrhea ORPHA:2067
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Sandifer Syndrome
Torticollis, Abnormal posturing, Anemia ORPHA:71272
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Hypospadias, Adrenal hyperplasia, Increased circulating progesterone, Fused labia m... ORPHA:95699
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Delayed puberty, Hypergonadotropic hypogonadism ORPHA:90646
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Small for gestational age, Failure to thrive, Diabetes mellitus, Clitoral hypoplasi... OMIM:614813
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait OMIM:300958
Choreoacanthocytosis
Self-injurious behavior, Oromandibular dystonia, Apathy, Splenomegaly, Irritability, Anxiety, Abn... ORPHA:2388
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Pierson Syndrome
Hypoproteinemia OMIM:609049
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity OMIM:300143
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Abnormal circulating creatine concentration, Self-mutilation, Hyperactivity,... ORPHA:52503
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia OMIM:614104
Insulin-Resistance Syndrome Type B
Leukopenia, Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentrati... ORPHA:2298
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Osteoporosis, Conjugated hyperbilirubinemia, Hypoalbumi... ORPHA:186
Juvenile Polyposis Syndrome
Anemia, Hypokalemia, Hypoalbuminemia OMIM:174900
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Hypouricemia, Decreased proportion of CD3-positive T cells, Hyperacti... ORPHA:760
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Anemia, Hypoalbuminemia ORPHA:79396
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Thin bony cortex, Rickets, Anemia, Reduced bone... OMIM:613658
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Lymphopenia ORPHA:391307
Carney Complex
Oligospermia, Thyroid carcinoma, Sertoli cell neoplasm, Abnormal morphology of female internal ge... ORPHA:1359
Primary Sclerosing Cholangitis
Osteoporosis, Splenomegaly, Osteopenia, Hepatosplenomegaly, Hypoalbuminemia, Depression ORPHA:171
Castleman Disease
Myelofibrosis, Anemia, Thrombocytopenia, Decreased mean corpuscular volume, Elevated circulating ... ORPHA:160
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Craniosynostosis, Hyperactivity, Ataxia, Depression, Bipolar affective d... OMIM:601853
Coffin-Siris Syndrome 7
Hyperactivity, Sagittal craniosynostosis OMIM:618027
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Macrocytic anemia, Attention deficit hyperactivity disorder OMIM:614294
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Smith-Magenis Syndrome
Self-mutilation, Hypercholesterolemia, Hyperactivity, Hypertriglyceridemia, Head-banging OMIM:182290
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Weight loss, Erectile... ORPHA:465508
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Aggressive behavior ORPHA:369939
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Dense calvaria, Splenomegaly OMIM:252920
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoalbuminemia OMIM:618329
Angelman Syndrome
Dysphagia, Happy demeanor, Polyphagia, Self-injurious behavior, Aggressive behavior, Inappropriat... ORPHA:72
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
X-Linked Adrenoleukodystrophy
Gait disturbance, Aggressive behavior, Inappropriate sexual behavior, Hyperactivity, Disinhibitio... ORPHA:43
Neurodegeneration With Brain Iron Accumulation 1
Gait disturbance, Dystonia, Dysphagia, Acanthocytosis, Bradykinesia, Blepharospasm, Tremor, Hyper... OMIM:234200
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis OMIM:617718
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Hyperactivity, Dysphagia, Fatigable weakness of ske... ORPHA:166108
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Aggressive behavior, Hyperactivity, Inability to walk, Ataxia, Low frustration ... ORPHA:168491
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Erectile dysfunction, Abnorma... ORPHA:206448
Juvenile Polyposis Of Infancy
Refractory anemia, Anemia, Hypoalbuminemia ORPHA:79076
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Chromosome 10Q26 Deletion Syndrome
Hyperactivity, Aggressive behavior, Craniosynostosis, Broad-based gait OMIM:609625
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, L... ORPHA:90363
Rubinstein-Taybi Syndrome 2
Hyperactivity OMIM:613684
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:600430
46,Xx Sex Reversal 1
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... OMIM:400045
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Anxiety, Attention def... ORPHA:449291
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Angelman Syndrome
Paroxysmal bursts of laughter, Limb tremor, Progressive gait ataxia, Hyperactivity, Broad-based gait OMIM:105830
Bloom Syndrome
Oligospermia, Small for gestational age, Azoospermia, Male infertility, Diabetes mellitus, Premat... ORPHA:125
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Wolfram Syndrome 1
Testicular atrophy, Diabetes insipidus, Tremor, Diabetes mellitus, Hypothyroidism OMIM:222300
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Anxiety, Aggressive behavior, Ataxia OMIM:618430
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Attention deficit hyperactivity disorder, Osteoporosis, Neonatal hyperbilirubinemia ORPHA:73272
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... ORPHA:1772
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Resting tremor, Primary amenorrhea, Premature ovarian i... OMIM:157640
Hyperlysinemia
Dysphagia, Opisthotonus, Hypoornithinemia, Dysmetria, Craniosynostosis, Hyperammonemia, Tremor, H... ORPHA:2203
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Cri-Du-Chat Syndrome
Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivity, Anxiety, Di... OMIM:123450
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Failure to thrive, E... OMIM:305400
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysphagia, Dysmetria, Abnormal circulating fatty-acid concentration, Hyperactiv... ORPHA:139396
Tay-Sachs Disease
Apathy, Exaggerated startle response OMIM:272800
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
16P12.1P12.3 Triplication Syndrome
Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail-biting ORPHA:485405
Potocki-Lupski Syndrome
Hypocholesterolemia, Hyperactivity, Oral-pharyngeal dysphagia OMIM:610883
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Dysphagia, Dense calvaria, Splenomegaly OMIM:252930
Juvenile Polyposis Syndrome
Hypoproteinemia, Anemia ORPHA:2929
19P13.3 Microduplication Syndrome
Self-injurious behavior, Hyperactivity, Irritability, Osteoporosis ORPHA:447980
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia OMIM:610042
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Dense calvaria, Splenomegaly OMIM:252900
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Elevated circulating C-reactive protein... OMIM:619381
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Low frustration tolerance ORPHA:163681
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Self-mutilation, Low frustration tolerance, Gait ataxia OMIM:300486
Fragile X Syndrome
Hyperactivity OMIM:300624</