Gene Summary

Name:
fibronectin type III domain containing 9
Synonyms:
C030019I05Rik

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 lean body mass Fndc9tm1.1(KOMP)Vlcg HOM Early adult 5.50×10-08
increased mean platelet volume Fndc9tm1.1(KOMP)Vlcg HOM   Early adult 1.37×10-05
decreased prepulse inhibition Fndc9tm1.1(KOMP)Vlcg HOM Early adult 3.74×10-11
male infertility Fndc9tm1.1(KOMP)Vlcg HOM Early adult 0.00
increased neutrophil cell number Fndc9tm1.1(KOMP)Vlcg HOM Early adult 6.72×10-05
increased circulating alkaline phosphatase level Fndc9tm1.1(KOMP)Vlcg HOM Early adult 3.94×10-09
decreased startle reflex Fndc9tm1.1(KOMP)Vlcg HOM   Early adult 1.72×10-06
decreased lymphocyte cell number Fndc9tm1.1(KOMP)Vlcg HOM Early adult 5.76×10-06
decreased bone mineral content Fndc9tm1.1(KOMP)Vlcg HOM   Early adult 5.19×10-05
increased circulating aspartate transaminase level Fndc9tm1.1(KOMP)Vlcg HOM Early adult 1.23×10-07
increased circulating bilirubin level Fndc9tm1.1(KOMP)Vlcg HOM Early adult 1.87×10-07
decreased grip strength Fndc9tm1.1(KOMP)Vlcg HOM Early adult 3.63×10-06
decreased thigmotaxis Fndc9tm1.1(KOMP)Vlcg HOM Early adult 5.82×10-05
increased total body fat amount Fndc9tm1.1(KOMP)Vlcg HOM Early adult 3.49×10-10
abnormal behavior Fndc9tm1.1(KOMP)Vlcg HOM Early adult 5.82×10-05
increased circulating alanine transaminase level Fndc9tm1.1(KOMP)Vlcg HOM Early adult 6.92×10-05
female infertility Fndc9tm1.1(KOMP)Vlcg HOM Early adult 0.00
hyperactivity Fndc9tm1.1(KOMP)Vlcg HOM Early adult 7.19×10-22

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Fndc9 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 Fndc9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Malaria
Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anem... ORPHA:673
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Neutrophil inclusion ... OMIM:155100
Immunodeficiency 8
Lymphopenia, Hyperactivity OMIM:615401
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Anemia of inadequate production, Sple... OMIM:237800
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Anemia of inadequate production, Anem... OMIM:613673
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Neutrophil inclusion ... OMIM:153640
Myh9-Related Disease
Congenital thrombocytopenia, Increased mean platelet volume, Menorrhagia, Giant platelets, Neutro... ORPHA:182050
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Tremor ORPHA:79234
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Failure to thrive OMIM:129850
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Menorrhagia, Giant platelets OMIM:231200
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Umbilical hernia,... OMIM:169400
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Episodic he... OMIM:601775
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Slc35A1-Cdg
Cellulitis, Neutropenia, Thrombocytopenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Sickle Cell Anemia
Iron deficiency anemia, Osteoporosis, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... ORPHA:232
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... OMIM:210250
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Ataxia, Decreased hemoglobin conce... ORPHA:713
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Failure to thrive, Splenomegaly, Osteopenia OMIM:269920
Hypermanganesemia With Dystonia 1
Tremor, Increased total iron binding capacity, Dystonia, Polycythemia, Bradykinesia, Steppage gai... OMIM:613280
Immunodeficiency 40
Lymphopenia OMIM:616433
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Classic Galactosemia
Osteoporosis, Postural tremor, Decreased fertility in females, Dystonia, Lethargy, Oligomenorrhea... ORPHA:79239
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Glycine Encephalopathy
Lethargy, Aggressive behavior, Hyperglycinemia, Impulsivity, Irritability, Hyperactivity OMIM:605899
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Amenorrhea, Lymphopenia, Neutropenia, Impotence, An... OMIM:604250
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Lethargy, Delayed proximal femoral epiphyseal ossification, Umbilica... ORPHA:95717
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Failure to th... OMIM:605814
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Truncal obesity, Neonatal hyperbilirubinemia, Small for gestational age, Failure to... ORPHA:73272
Mental Retardation, Autosomal Dominant 33
Decreased body weight, Hyperactivity OMIM:616311
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Neonatal hyperbi... OMIM:618892
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, ... OMIM:616278
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Obesity OMIM:609734
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Osteopetrosis, Pancytopenia, Thro... OMIM:259720
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... OMIM:615897
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hyperbilirubinemia, Hypermethioninemia, Failure to thrive OMIM:614300
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Increased mean platelet volume, Menorrhagia, Splenomegaly OMIM:153670
Insulin-Like Growth Factor I Deficiency
Osteopenia, Decreased body weight, Hyperactivity OMIM:608747
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Immunodeficiency 19
Lymphopenia, Failure to thrive OMIM:615617
Phenylketonuria
Self-mutilation, Maternal hyperphenylalaninemia, Aggressive behavior, Depression, Hyperphenylalan... OMIM:261600
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Relapsing Fever
Increased total bilirubin, Leukocytosis, Elevated circulating creatinine concentration, Thrombocy... ORPHA:91547
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Increased body weight ORPHA:890
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Dystonia OMIM:616299
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Difficulty walking, Hyperbilirubinemia, Hyponatremia, Neut... ORPHA:1667
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis OMIM:612653
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly OMIM:214900
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... ORPHA:288
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia, Hyperprolinemia OMIM:239500
Glycogen Storage Disease Vii
Increased total bilirubin, Hemolytic anemia, Reticulocytosis, Hyperuricemia, Reduced erythrocyte ... OMIM:232800
Distal Xq28 Microduplication Syndrome
Aggressive behavior, Depression, Neonatal hyperbilirubinemia, Impulsivity, Self-biting, Anxiety, ... ORPHA:293939
Trichohepatoenteric Syndrome 1
Thrombocytosis, Abnormality of iron homeostasis, Hypermethioninemia, Increased mean platelet volu... OMIM:222470
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Lathosterolosis
Osteoporosis, Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Increased mean ... OMIM:607330
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomega... OMIM:109270
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis OMIM:182900
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Normocytic anemia, Normochr... OMIM:235700
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Familial Thyroid Dyshormonogenesis
Lethargy, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Neonatal hyperbilir... ORPHA:95716
Takenouchi-Kosaki Syndrome
Camptodactyly, Increased mean platelet volume, Ataxia, Thrombocytopenia, Inguinal hernia OMIM:616737
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia, Umbilical hernia ORPHA:95715
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Dystonia, Ataxia, Hypertriglyceridemia, Hyperactivity OMIM:615924
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:185000
Bachmann-Bupp Syndrome
Large for gestational age, Hyperbilirubinemia, Aggressive behavior, Attention deficit hyperactivi... OMIM:619075
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Anemia, Macrothrombocytopenia OMIM:616176
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Thrombocytopenia, Hypoalbuminemia, Failure to thrive, Splenomegaly OMIM:251880
Syndromic Diarrhea
Thrombocytosis, Abnormality of iron homeostasis, Lymphopenia, Increased mean platelet volume, Hyp... ORPHA:84064
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Oligospermia ORPHA:1646
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Hyperbilirubinemia, Hernia ORPHA:101009
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Tremor, Aggressive behavior, Broad-based gait, Resting tremor, Obesit... ORPHA:3077
Bile Acid Conjugation Defect 1
Rickets, Conjugated hyperbilirubinemia OMIM:619232
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia, Male infertility OMIM:261550
Abetalipoproteinemia
Gait ataxia, Hypotriglyceridemia, Reticulocytosis, Steppage gait, Hyperbilirubinemia, Ataxia, Hyp... ORPHA:14
Graft Versus Host Disease
Hemophagocytosis, Hyperbilirubinemia, Lipodystrophy, Dupuytren contracture, Irritability, Failure... ORPHA:39812
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Tremor, Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Hyperbilirubinemia, Hypocholesterolemia, Failure to thrive, Splenomegaly OMIM:607765
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Polycythemia, Hyperbilirubinemia, Failure to thrive OMIM:606812
Pyruvate Carboxylase Deficiency
Tremor, Dystonia, Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L... ORPHA:3008
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased body weight, Hyperbilirubinemia, Elevated circulating long chain fatty acid concentrati... OMIM:614886
Cystic Echinococcosis
Peritoneal abscess, Bone cyst, Hyperbilirubinemia, Weight loss, Splenic cyst, Abscess, Eosinophilia ORPHA:400
Intrahepatic Cholestasis Of Pregnancy
Tremor, Depression, Hyperbilirubinemia, Small for gestational age, Increased serum bile acid conc... ORPHA:69665
Hyperphosphatasia With Mental Retardation Syndrome 6
Aggressive behavior, Flexion contracture, Inguinal hernia, Hip contracture, Knee flexion contract... OMIM:616809
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Bernard-Soulier Syndrome
Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Menorrhagia, Giant plate... ORPHA:274
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Failure to thrive, Splenomegaly OMIM:211600
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Failure to thrive, Splenomegaly OMIM:235555
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Lethargy, Delayed proximal femoral epiphyseal ossification, Depression, Umb... ORPHA:90674
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Juvenile Huntington Disease
Dystonia, Gait ataxia, Depression, Weight loss, Ataxia, Bradykinesia, Progressive cerebellar atax... ORPHA:248111
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly ORPHA:90037
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Intellectual Developmental Disorder, X-Linked 104
Tremor, Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Aggressive behavior, Small for gestational age, Anxiety, Failure to thrive, Hyperact... OMIM:609425
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Hyperlysinemia, Type I
Hyperlysinemia, Anemia, Hyperactivity OMIM:238700
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Neonatal hyperbilirubinemia, Hyperactivity OMIM:609727
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Elevated circulating gamma-aminobutyric acid concentration, Self-injurious b... OMIM:271980
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis OMIM:268150
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Failure to thrive OMIM:617718
Congenital Erythropoietic Porphyria
Osteoporosis, Osteolysis, Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, R... ORPHA:79277
Biliary Atresia, Extrahepatic
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia OMIM:210500
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Chronic hemolytic anemia, Unconjugated hyperbilirubinemia, Splenomegaly OMIM:266200
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Failure to thrive OMIM:214950
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Failure to thrive, Hyperactivity OMIM:618362
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Conjugated hyperbilirubinemia, Failure to thrive OMIM:613404
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Gait ataxia, Reduced intraabdominal adipose tissue, Ataxia, Hypertriglyceridemia, Limb dy... ORPHA:363400
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Failure to thrive, Splenomegaly OMIM:601847
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Increased circulati... ORPHA:90673
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... ORPHA:444463
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Decreased body mass index, Tremor, Aggressive behavior, Le... ORPHA:247585
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creatinine... ORPHA:90038
Aromatase Deficiency
Osteoporosis, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Delayed epi... ORPHA:91
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Arthrogryposis multiplex congenita, Conjugated hyperbilirubinemia, Failure to thrive OMIM:208085
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Hepatocellular Carcinoma
Thrombocytosis, Polycythemia, Hyperbilirubinemia, Hyponatremia, Weight loss, Emotional lability, ... ORPHA:88673
Ring Chromosome Y Syndrome
Male hypogonadism, Azoospermia, Streak ovary, Female infertility, Male infertility, Abnormal sper... ORPHA:261529
Autoimmune Hepatitis
Increased total bilirubin, Depression, Anxiety, Splenomegaly ORPHA:2137
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Depression, Emotional lability, Impulsivity, Anxiety, Hyperacti... ORPHA:98818
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Lethargy, Decreased plasma total carnitine, Decreased plasma free carn... OMIM:608836
Ck Syndrome
Slender build, Aggressive behavior, Abnormal cortical bone morphology, Irritability, Hyperactivity OMIM:300831
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Ataxia, Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib OMIM:603585
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Camptodactyly, Flexion contracture, Increased mean platelet volume, Thrombocytopenia, Inguinal he... ORPHA:487796
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hypouricemia, Decreased proportion of C... ORPHA:760
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Caroli Syndrome
Leukocytosis, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Thrombocytopenia, Hypersplenism,... ORPHA:480520
Purine Nucleoside Phosphorylase Deficiency
Tremor, Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thromboc... OMIM:613179
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Hardikar Syndrome
Hyperbilirubinemia, Failure to thrive, Splenomegaly OMIM:612726
Premature Ovarian Failure 6
Streak ovary, Primary amenorrhea, Female infertility, Secondary amenorrhea, Premature ovarian ins... OMIM:612310
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Methylmalonic Aciduria, Cbla Type
Tremor, Lethargy, Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmalonic aci... OMIM:251100
Familial Male-Limited Precocious Puberty
Male infertility, Attention deficit hyperactivity disorder, Oligospermia ORPHA:3000
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Decreased body weight, Hyperactivity OMIM:618342
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Tape... OMIM:618433
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Panniculitis, Lipodystrophy, Failure to thrive in infancy, Increased proportion of ... OMIM:617099
Lennox-Gastaut Syndrome
Personality disorder, Falls, Aggressive behavior, Hyperactivity ORPHA:2382
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Cellulitis, Reduction of neutrophil motility, Anxiety OMIM:266265
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis, Osteolysis involving bones of the upper limbs, Hyperbilirubinemia, Thrombocytopenia, ... ORPHA:464321
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Lymphopenia, Irritability, Hyperactivity, Premature ovarian insufficiency ORPHA:391307
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... ORPHA:485350
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Irritability, Hyperuricemia ORPHA:348
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Failure to thrive, Hyperactivity OMIM:274270
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Self-injurious behavior, Paroxysmal bursts of laughter, Hyperactivity OMIM:618718
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Conjugated hyperbilirubinemia, Ataxia, Hepatosplenomegaly, Spontaneous hemolytic ... ORPHA:168577
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Obesity, Hyperactivity, Broad-based gait, Happy demeanor ORPHA:411515
Autism Spectrum Disorder Due To Auts2 Deficiency
Arthrogryposis multiplex congenita, Joint contracture of the 5th finger, Congenital contracture, ... ORPHA:352490
Nephrotic Syndrome, Type 14
Lymphopenia, Ataxia, Hypertriglyceridemia, Hypoalbuminemia, Hypogonadism OMIM:617575
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Ck Syndrome
Slender build, Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Thrombocyt... OMIM:600903
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss, Elevated circulating C-reactive protein concentration, Anemia, Neutrophilia, Brain a... ORPHA:54251
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Impulsivity, Depression ORPHA:88616
Ataxia-Telangiectasia
T lymphocytopenia, Tremor, Dystonia, Decreased proportion of CD4-positive helper T cells, Lymphop... OMIM:208900
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Neutropenia, Anemia, Elevated alpha-fetoprotein OMIM:617243
Lissencephaly Due To Lis1 Mutation
Opisthotonus, Neonatal hyperbilirubinemia ORPHA:95232
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Spinocerebellar Ataxia Type 32
Progressive cerebellar ataxia, Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Tremor, Truncal ataxia, Aggressive behavior, Ataxia, Unste... ORPHA:228360
Methylmalonic Aciduria, Cblb Type
Lethargy, Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmalonic acidemia, A... OMIM:251110
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Tremor, Gait ataxia, Aggressive behavior, Abdominal obesity, Hyperactivity, Hypogonadism, Mood sw... OMIM:300354
Caroli Disease
Leukocytosis, Conjugated hyperbilirubinemia, Weight loss, Splenomegaly, Liver abscess ORPHA:53035
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Stiff Person Spectrum Disorder
Difficulty walking, Agoraphobia, Emotional lability, Exaggerated startle response, Falls, Anxiety ORPHA:3198
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior, Obesity OMIM:617752
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Cellulitis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic ane... ORPHA:486
Ataxia-Telangiectasia
Tremor, Gait disturbance, Lymphopenia, Ataxia, Failure to thrive ORPHA:100
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Anemia ORPHA:163979
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Periostitis, Failure to thrive in infancy, Elevated circulating C-reactive protein co... OMIM:612852
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Failure to thrive ORPHA:277
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Cellulitis, Lymphopenia, Abnormally low T cell receptor excisio... OMIM:618986
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Happy demeanor, Failure to thrive, Hyperactivity, Broad-based gait OMIM:617865
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Immunodeficiency 31C
Autoimmune hemolytic anemia, Osteopenia, Lymphopenia OMIM:614162
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of inadequate production,... OMIM:617780
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Stiff-Person Syndrome
Depression, Agoraphobia, Opisthotonus, Exaggerated startle response, Anxiety, Anemia OMIM:184850
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Anxiety, Abnormal fear/anxiety-related behavior, Inapprop... ORPHA:309246
Primary Biliary Cholangitis
Osteoporosis, Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentr... ORPHA:186
Smith-Magenis Syndrome
Self-mutilation, Hypercholesterolemia, Head-banging, Hypertriglyceridemia, Increased body weight,... OMIM:182290
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Flexion contracture, Panniculitis, Lipodystrophy, Thrombocytopenia, Hypertriglycerid... OMIM:617591
Avian Influenza
Lymphopenia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hypoalbumin... ORPHA:454836
X-Linked Creatine Transporter Deficiency
Self-mutilation, Dystonia, Abnormal circulating creatine concentration, Ataxia, Cachexia, Hyperac... ORPHA:52503
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hypomagnesemia, Male infertility, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration, Small for gestation... ORPHA:567983
Pediatric-Onset Graves Disease
Tremor, Craniosynostosis, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia,... ORPHA:525731
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia, Recurrent cutaneous abscess formation, Neutropenia, Aggressive behavior ORPHA:163956
Fructose Intolerance, Hereditary
Hypophosphatemia, Lethargy, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Failure to thrive,... OMIM:229600
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Hyperactivity, Attention deficit hyperactivity ... OMIM:614294
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Weight loss, Thrombocytopenia, Abnormal neutrophil count, Splenomegaly, Myeloprolif... ORPHA:3226
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Cryptogenic Organizing Pneumonia
Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss, Leukocytosis ORPHA:1302
Primary Ciliary Dyskinesia
Polysplenia, Female infertility, Abnormal sperm motility, Asplenia, Male infertility ORPHA:244
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Hyperactivity DECIPHER:39
Herpes Simplex Virus Encephalitis
Neutrophilia, Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:1930
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Small for gestational age, Failure to thrive, Splenomegaly, Severe... ORPHA:30391
Mirage Syndrome
Radial club hand, Hypergonadotropic hypogonadism, Lymphopenia, Hyponatremia, Decreased body weigh... OMIM:617053
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Osteoporosis, Leukocytosis, Chronic lymphatic leukemia, Weight loss, Normocytic... ORPHA:98849
Cranioectodermal Dysplasia 2
Craniosynostosis, Polysplenia, Hyperbilirubinemia, Inguinal hernia, Splenomegaly OMIM:613610
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:101039
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Emotional lability, Irritability, Hyperactivity, Attention defic... ORPHA:1929
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Failure to thrive, Hyperactivity OMIM:615286
Staphylococcal Necrotizing Pneumonia
Lethargy, Leukocytosis, Elevated circulating C-reactive protein concentration, Leukopenia, Neutro... ORPHA:36238
47,Xyy Syndrome
Azoospermia, Oligospermia, Impulsivity, Hyperactivity, Male infertility, Attention deficit hypera... ORPHA:8
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Lymphopenia, Weight loss, Hy... ORPHA:90362
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Impulsivity, Hyperactivity ORPHA:500180
Inverted Duplicated Chromosome 15 Syndrome
Aggressive behavior, Hernia, Self-biting, Hyperactivity, Hypogonadism ORPHA:3306
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Choreoacanthocytosis
Hair-pulling, Head titubation, Weight loss, Emotional lability, Head-banging, Progressive inabili... ORPHA:2388
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia, Self-biting, Hyperactivity OMIM:618314
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Tay-Sachs Disease
Inability to walk, Tremor, Dystonia, Depression, Gait disturbance, Increased serum beta-hexosamin... ORPHA:845
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Waddling gait, Anemia, Os... OMIM:242900
Mental Retardation, Autosomal Dominant 7
Inappropriate laughter, Gait disturbance, Failure to thrive in infancy, Ataxia, Small for gestati... OMIM:614104
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Lethargy, Umbilical hernia OMIM:218700
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Gait disturbance, Impotence, Inappropriate sexual behavior, H... ORPHA:43
Adult-Onset Still Disease
Leukocytosis, Abnormal circulating lipid concentration, Elevated circulating C-reactive protein c... ORPHA:829
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia, Splenomegaly OMIM:613471
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Lymphopenia, Elevated circulating C-reactive protein concentration, Anemia, Leuko... OMIM:615934
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... ORPHA:331206
Psoriasis 14, Pustular
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:614204
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Emotional lability, Limb tremor, Exaggerated startle response, Torticoll... OMIM:608643
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia, Granuloma ORPHA:562639
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Myoclonic-Astatic Epilepsy
Tremor, Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Hyperactivity, Attention deficit... ORPHA:1942
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Aggressive behavior, Decreased body weight, Hyperactivity OMIM:300958
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... ORPHA:443811
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, S... OMIM:227650
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Short Stature, Microcephaly, And Endocrine Dysfunction
Dysdiadochokinesis, Lymphopenia, Gait disturbance, Abnormal circulating lipid concentration, Atax... OMIM:616541
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Inappropriate laughter, Gait ataxia, Aggressive behavior, Opi... OMIM:103050
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Craniosynostosis, Depression, Self-injurious behavior, Ataxia, Hypera... OMIM:601853
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Flexion contracture, Ataxia, Emotional lability, Unsteady gait, Impul... ORPHA:35069
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Ciliary Dyskinesia, Primary, 14
Male infertility, Polysplenia, Immotile sperm, Reduced sperm motility OMIM:613807
Graves Disease, Susceptibility To, 1
Irritability, Weight loss, Hyperactivity OMIM:275000
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Cri-Du-Chat Syndrome
Self-mutilation, Aggressive behavior, Difficulty walking, Inguinal hernia, Small for gestational ... OMIM:123450
Cyclic Neutropenia
Cellulitis, Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, Perianal ab... ORPHA:2686
Biliary Malformation With Renal Tubular Insufficiency
Conjugated hyperbilirubinemia, Failure to thrive OMIM:210550
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Male hypogonadism, Difficulty walking, Gait disturbance, Ataxia, Abnormal circ... ORPHA:139396
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Failure to thrive, Hyperactivity ORPHA:369939
Hyperlysinemia
Tremor, Craniosynostosis, Hypoornithinemia, Hyperlysinemia, Opisthotonus, Failure to thrive, Hype... ORPHA:2203
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Lymphopenia, Hypoproteinemia ORPHA:90363
Angelman Syndrome
Inability to walk, Tremor, Inappropriate laughter, Aggressive behavior, Delayed menarche, Self-in... ORPHA:72
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Tremor, Aggressive behavior, Inguinal hernia, Cachexia, Hyperactivity, H... ORPHA:85293
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Panniculitis, Acute myeloid leukemia, Elevated circulat... ORPHA:3243
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Self-injurious behavior, Aggressive behavior, Obesity OMIM:600430
13Q12.3 Microdeletion Syndrome
Self-mutilation, Camptodactyly, Congenital diaphragmatic hernia, Failure to thrive, Hyperactivity... ORPHA:412035
19P13.12 Microdeletion Syndrome
Craniosynostosis, Arthrogryposis multiplex congenita, Self-injurious behavior, Hyperactivity, Hyp... ORPHA:254346
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Tremor, Inappropriate laughter, Ataxia, Obesity, Hyperactivity, Gait imbalance, Broad-based gait,... ORPHA:98794
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteoporosis, Premature ovarian insufficiency, Depression, Atypical scarring of skin, Primary ame... ORPHA:99413
Turner Syndrome
Osteoporosis, Premature ovarian insufficiency, Depression, Atypical scarring of skin, Primary ame... ORPHA:881
Mosaic Monosomy X
Osteoporosis, Premature ovarian insufficiency, Depression, Atypical scarring of skin, Primary ame... ORPHA:99228
Monosomy X
Osteoporosis, Premature ovarian insufficiency, Depression, Atypical scarring of skin, Primary ame... ORPHA:99226
Mucopolysaccharidosis, Type Iiib
Aggressive behavior, Dense calvaria, Hyperactivity, Splenomegaly OMIM:252920
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Failure to thrive, Hypocholesterolemia OMIM:610883
Intellectual Disability, Birk-Barel Type
Congenital finger flexion contractures, Fatiguable weakness of proximal limb muscles, Fatigable w... ORPHA:166108
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Amenorrhea OMIM:110100
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Early ossification of capital femoral epiphyses, Conjugated hyperbilirubinemia OMIM:208500
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Lymphopenia, Panniculitis, Ataxia, Pancytopenia, Splenomegaly, Elev... OMIM:615688
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:276
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Ataxia, Anxiety, Hyperactivity, Obesity OMIM:618430
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Aggressive behavior, Gait disturbance, Ataxia, Low frustration tolerance, Anxi... ORPHA:168491
2Q23.1 Microdeletion Syndrome
Paroxysmal bursts of laughter, Self-injurious behavior, Ataxia, Hyperactivity ORPHA:228402
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Immunodeficiency 49
Umbilical hernia, Lymphopenia, Eosinophilia OMIM:617237
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Irregular menstruation, Primary amenorrhea, Decreased circulating renin level,... ORPHA:90793
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Failure to thrive secondary to recurrent infections, Decreased proportion of CD3-positive T cells... ORPHA:169160
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Amelogenesis imperfecta, Pancytopenia, Acute myeloid leukemia, Reduced bone mi... OMIM:617052
Legionnaires Disease
Cellulitis, Lymphopenia, Hyponatremia, Ataxia, Splenomegaly ORPHA:549
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Depression, Self-injurious behavior, Irritability, Anxiety, Hyperactivity, A... ORPHA:449291
Macrocephaly/Autism Syndrome
Obesity, Lymphopenia, Splenomegaly OMIM:605309
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Exaggerated startle response, Anxiety, Broad-based gait ORPHA:438216
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Emotional lability, Impulsivity, Dysmetr... OMIM:610217
16P12.1P12.3 Triplication Syndrome
Skin-picking, Nail-biting, Anxiety, Failure to thrive, Hyperactivity, Attention deficit hyperacti... ORPHA:485405
Angelman Syndrome
Progressive gait ataxia, Paroxysmal bursts of laughter, Limb tremor, Hyperactivity, Broad-based g... OMIM:105830
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Hernia, Dense calvaria, Splenomegaly OMIM:252930
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Panniculitis, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, A... ORPHA:508542
Sandhoff Disease
Exaggerated startle response, Hepatosplenomegaly, Impotence, Ataxia OMIM:268800
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Flexion contracture, Failure to thrive OMIM:618201
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ... ORPHA:3261
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Neutropenia, Ataxia, Failure to thrive, Abscess, Eosinophilia OMIM:615816
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Dense calvaria, Splenomegaly OMIM:252900
Dyskeratosis Congenita, Autosomal Dominant 1
Osteoporosis, Lymphopenia, Ataxia, Thrombocytopenia, Aplastic anemia, Anemia OMIM:127550
Gm2-Gangliosidosis, Ab Variant
Apathy, Exaggerated startle response, Dystonia OMIM:272750
Glass Syndrome
Aggressive behavior, Camptodactyly, Inguinal hernia, Happy demeanor, Hyperactivity, Broad-based gait OMIM:612313
Argininemia
Hyperargininemia, Spastic gait, Irritability, Hyperactivity, Hyperammonemia OMIM:207800
Bloom Syndrome
Azoospermia, Oligospermia, Adipose tissue loss, Acute myeloid leukemia, Small for gestational age... ORPHA:125
Icf Syndrome
Abnormality of neutrophils, Umbilical hernia, Lymphopenia, Anemia ORPHA:2268
21Q22.11Q22.12 Microdeletion Syndrome
Inappropriate crying, Self-injurious behavior, Camptodactyly, Failure to thrive in infancy, Throm... ORPHA:261323
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response, Multiple joint contractures ORPHA:320406
Familial Mediterranean Fever
Leukocytosis, Orchitis, Elevated circulating amyloid A, Elevated circulating C-reactive protein c... OMIM:249100
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Lymphopenia, Impaired oxidative burst, Granuloma, Perianal abscess, Splenomegal... OMIM:618935
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Elevated circulating creatine kinase concentration, Exaggerated startle response, Flexion contrac... OMIM:253800
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Aggressive behavior, Flexion contracture, Emotional lability, Low frustration tolerance, Hyperact... OMIM:309520
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Congenital hypoplastic a... OMIM:250250
Wiskott-Aldrich Syndrome
Abnormality of the menstrual cycle, Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lympho... ORPHA:906
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia, Hyperactivit... OMIM:251260
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphopenia, Abnormal T cell morphology, Failure to thrive, Hepatosplenome... OMIM:242700
Popov-Chang syndrome
Lymphopenia, Failure to thrive, Self-injurious behavior OMIM:618428
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Tremor, Akinesia, Depression, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hy... OMIM:234200
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Androgen Insensitivity Syndrome
Inguinal hernia, Male infertility ORPHA:754
Japanese Encephalitis
Pill-rolling tremor, Tremor, Dystonia, Hyponatremia, Opisthotonus, Neutrophilia, Elbow flexion co... ORPHA:79139
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, T lymphocytopenia, Craniosynostosis, Decreased proportion of CD8-positive T ce... ORPHA:508533
Tay-Sachs Disease
Apathy, Exaggerated startle response OMIM:272800
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly OMIM:616100
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Camptodactyly, Umbilical hernia, Hypoalbuminemia, Joint contracture of the hand, Hyperactivity, C... OMIM:235510
Mucopolysaccharidosis Type 3
Fatigable weakness of swallowing muscles, Disinhibition, Aggressive behavior, Craniofacial hypero... ORPHA:581
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Immunodeficiency 36
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Hyperekplexia 1
Exaggerated startle response, Inguinal hernia, Umbilical hernia OMIM:149400
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Leukocytosis, Scarring, Ataxia, Umbilical hernia, Impaired tandem gait, Small ... ORPHA:99843
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture OMIM:609541
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Oligomenorrhea, Hypergonadotropic hypogonadism, Streak ovary, Female infertility, Secondary ameno... ORPHA:572333
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation w... OMIM:600802
Fusariosis
Lung abscess, Cellulitis, Lymphopenia, Panniculitis, Granuloma, Neutropenia, Fasciitis, Abnormali... ORPHA:228119
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Corneal scarring, Hyperactivity, Emotional lability OMIM:256800
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Delayed ossification of carpal bones, Lymphopenia, Eosinophilia OMIM:617425
Glycine Encephalopathy With Normal Serum Glycine
Arthrogryposis multiplex congenita, Flexion contracture, Exaggerated startle response, Hip contra... OMIM:617301
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation w... ORPHA:35078
Pneumocystosis
Abnormal neutrophil count, Weight loss ORPHA:723
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Autoimmune thrombocytopenia, Lymphopenia, Neutropenia, Sclerosis of skull base OMIM:607944
Congenital Disorder Of Glycosylation, Type Iim
Enamel hypoplasia, Neonatal hyperbilirubinemia OMIM:300896
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Ataxia, Hyperactivity OMIM:610042
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Ciliary Dyskinesia, Primary, 1
Male infertility, Asplenia OMIM:244400
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Plaa-Associated Neurodevelopmental Disorder
Contractures of the large joints, Exaggerated startle response, Failure to thrive, Dystonia ORPHA:521426
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Reduced bone mineral density, Lymphopenia, Inguinal hernia, Anemia ORPHA:935
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neutropenia in presence of... ORPHA:391487
Cystinosis, Nephropathic
Decreased plasma carnitine, Male hypogonadism, Rickets, Hypophosphatemic rickets, Hyponatremia, F... OMIM:219800
Whim Syndrome
Cellulitis, Limb ataxia, Lymphopenia, Neutropenia, Abnormality of neutrophil morphology ORPHA:51636
Asparagine Synthetase Deficiency
Exaggerated startle response, Failure to thrive OMIM:615574
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Gm1 Gangliosidosis Type 1
Abnormality of odontoid tissue, Exaggerated startle response, Hepatosplenomegaly ORPHA:79255
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Myelofibrosis, Leukocytosis, Thrombocytopenia, Anemia, Splenomegaly, Neutrophilia... ORPHA:3260
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination