Gene Summary

guanine nucleotide binding protein-like 1
Gna-rs1,  Gnal1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Gnl1em1(IMPC)Tcp HOM Early adult 5.22×10-07
short tibia Gnl1em1(IMPC)Tcp HOM Early adult 4.34×10-05
decreased locomotor activity Gnl1em1(IMPC)Tcp HOM Early adult 4.79×10-05
hydrocephaly Gnl1em1(IMPC)Tcp HOM Early adult 0.00
abnormal cranium morphology Gnl1em1(IMPC)Tcp HOM Early adult 2.21×10-09
shortened PR interval Gnl1em1(IMPC)Tcp HOM Early adult 8.85×10-06
impaired glucose tolerance Gnl1em1(IMPC)Tcp HOM Early adult 1.48×10-08
limb grasping Gnl1em1(IMPC)Tcp HOM Early adult 2.99×10-06
increased vertical activity Gnl1em1(IMPC)Tcp HOM Early adult 6.90×10-05
decreased erythrocyte cell number Gnl1em1(IMPC)Tcp HOM   Early adult 8.88×10-05
abnormal bone structure Gnl1em1(IMPC)Tcp HOM   Early adult 2.16×10-05
decreased body length Gnl1em1(IMPC)Tcp HOM Early adult 3.82×10-21
male infertility Gnl1em1(IMPC)Tcp HOM Early adult 0.00
thrombocytopenia Gnl1em1(IMPC)Tcp HOM Early adult 1.81×10-07
increased total body fat amount Gnl1em1(IMPC)Tcp HOM Early adult 3.62×10-06
increased mean platelet volume Gnl1em1(IMPC)Tcp HOM Early adult 7.38×10-06
decreased mean corpuscular hemoglobin concentration Gnl1em1(IMPC)Tcp HOM Early adult 1.33×10-05
decreased lean body mass Gnl1em1(IMPC)Tcp HOM   Early adult 5.32×10-09
decreased hemoglobin content Gnl1em1(IMPC)Tcp HOM   Early adult 3.16×10-05
female infertility Gnl1em1(IMPC)Tcp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Slit Lamp

15 Images

Eye Morphology

Images Ophthalmoscopy

98 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection


10 Images



10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Gnl1 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 Gnl1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Epistaxis, Myocardial infarction, Giant platelets, Macrothrombocytope... OMIM:155100
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... OMIM:314050
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant p... OMIM:231200
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Increased mean platelet volume, Myocardial infarction, Giant pl... ORPHA:182050
Pelger-Huet Anomaly
Abnormality of neutrophils, Thrombocytopenia, Hyposegmentation of neutrophil nuclei, Giant platel... OMIM:169400
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... ORPHA:494444
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Hydrocephalus, Rhizomelia, Thrombocytopenia OMIM:166990
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Hip dysplasia, Clinod... ORPHA:71289
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia OMIM:137560
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... OMIM:617443
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Inguinal hernia, Ataxia, Tremor, Unsteady gait, Small hand, Obesi... OMIM:614947
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia, Pulmonary... ORPHA:238459
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Rhizomelia, Failure to thrive in infancy, Micrognathia, Cryptorchidism, Thrombocytope... OMIM:611209
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Hypoglycemia, Atrial fibrillation, J... ORPHA:137675
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Tremor, Splenomegaly, CSF pleocytosis, Increased CSF interferon alpha, Dystonia... OMIM:615010
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, Hydrocephalus, ST segment e... OMIM:261740
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia OMIM:209970
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... OMIM:153670
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Wt Limb-Blood Syndrome
Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Cryptorchidism, Shor... OMIM:194350
Takenouchi-Kosaki Syndrome
Ventriculomegaly, Inguinal hernia, Overlapping toe, Ataxia, Proximal placement of thumb, Tapered ... OMIM:616737
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Premature Ovarian Failure 2B
Primary amenorrhea, Premature ovarian insufficiency, Osteoporosis, Female infertility OMIM:300604
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Hydrocephalus, Anemia, Dystonia, Thrombocytopenia OMIM:619302
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent... ORPHA:3282
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking ORPHA:251912
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Hydrocephalus, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, ... OMIM:618709
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Inability to ... OMIM:620066
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly OMIM:611808
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Macrothrombocytopenia, Anemia, Menorrhagia, Thrombocytopenia OMIM:616176
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Splenomegaly, Shor... OMIM:232300
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure ORPHA:46532
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Ataxia-Pancytopenia Syndrome
Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, ... OMIM:159550
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flask deformity of the femurs, Thromb... OMIM:610539
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Hypoglycemia, Ataxia, Postural tremor, Decreas... ORPHA:79239
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Aggressive behavior, Tremor, Hydrocephalus, Elbow flexion contra... OMIM:619470
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Cardiac arrest, Anorexia, Megaloblastic anemia, Congestive heart failure, Paro... ORPHA:49827
Preeclampsia/Eclampsia 1
Hypertension, Thrombocytopenia OMIM:189800
Aicardi-Goutieres Syndrome 3
CSF lymphocytic pleiocytosis, Dystonia, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Tremor, Shortened PR interval, Obesity, Weight loss, Impaired myocardial c... ORPHA:79102
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
1Q21.1 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Hip dislocation, Hip dysplasia, Talipes equinovarus, Attention def... ORPHA:250994
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly OMIM:615938
Bilateral Striopallidodentate Calcinosis
Ventriculomegaly, Thrombocytopenia ORPHA:1980
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Osteopenia, Failure to thrive in infancy, Camptodactyly of finger, Craniosynostosis, Coxa valga, ... ORPHA:356961
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Folate Malabsorption, Hereditary
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Failure to th... OMIM:229050
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia, Decreased body weight OMIM:613606
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Delayed vertebral ossification, Enlarged epiphyses, Metaphyseal dysplasia, Small for gestational ... OMIM:613330
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Glycogen Storage Disease Due To Acid Maltase Deficiency
Transient ischemic attack, Inability to walk, Vasculitis, Osteoporosis, Shortened PR interval, Le... ORPHA:365
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Metaphyseal dysplasia, Osteoporosis, Diaphyseal dysplasia, Failure to thriv... OMIM:614727
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation, Orbital craniosynostosis, Micrognathia ORPHA:1538
Craniofacial Conodysplasia
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Gray Platelet Syndrome
Epistaxis, Abnormality of thrombocytes, Abnormality of the menstrual cycle, Splenomegaly, Thrombo... ORPHA:721
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Decreased platelet gl... ORPHA:274
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Anemia, Gait imbalance, Thrombocytopenia ORPHA:673
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus, Ataxia ORPHA:99966
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Menorrhagia, Thrombocytopenia OMIM:124900
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly OMIM:615937
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Congestive heart failure, Dysphagia, Short long bone, Camptodactyly, Pu... OMIM:619751
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Anorexia, Splenomegaly, Choreoathetosis, Anemia, Cardiomyopathy, Neutropenia, Lethargy,... ORPHA:79312
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Ataxia, Thiamine-responsive megaloblastic anemia, Crypto... OMIM:249270
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Aicardi-Goutieres Syndrome 4
Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CSF lymphocytic ... OMIM:610333
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Nasu-Hakola Disease
Hydrocephalus, Bone cyst, Acute leukemia, Reduced bone mineral density, Abnormal adipose tissue m... ORPHA:2770
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Spermatogenic Failure 17
Male infertility OMIM:617214
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Shortened PR interval, Heart murmur, Low-output conge... ORPHA:308552
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia, Dystonia OMIM:619301
Toe syndactyly, Increased mean platelet volume, Micrognathia, Acanthocytosis, Postaxial hand poly... OMIM:607330
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Developmental And Epileptic Encephalopathy 36
Microretrognathia, Hydrocephalus, Flexion contracture, Small hand, Self-mutilation OMIM:300884
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Restless legs, Paresis of extensor muscles of the big toe, Postural tremor, Abnormal foot morphol... ORPHA:99947
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoglycemia, Small for gestational age, Cryp... OMIM:607143
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate... ORPHA:98826
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Inguinal hernia, Broad hallux, Craniosynostosis, 1-3 toe syndactyly, Crypto... OMIM:175700
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Dk Phocomelia Syndrome
Phocomelia, Encephalocele, Thrombocytopenia OMIM:223340
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ventriculomegaly, Ataxia, Hypoglycemia, Severe temper tantrums, Aggressive behavior, Tremor, Dysm... OMIM:617710
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Tremor, Limited mobility o... OMIM:222300
Congenital Toxoplasmosis
Ventriculomegaly, Failure to thrive in infancy, Hydrocephalus, Anemia, Thrombocytopenia ORPHA:858
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Sengers Syndrome
Osteopenia, Premature ovarian insufficiency, Cardiac arrest, Sudden cardiac death, Pulmonary arte... OMIM:212350
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Failure to thrive, Hypoglycemia, Thrombocytopenia ORPHA:67048
Methylmalonic Acidemia With Homocystinuria
Lethargy, Hydrocephalus, Failure to thrive, Gait disturbance ORPHA:26
Stuve-Wiedemann Syndrome 1
Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx... OMIM:601559
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Epistaxis, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Menorrhagia, Epistaxis, Thrombocytopenia OMIM:613554
Fetal Parvovirus Syndrome
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia ORPHA:295
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger... OMIM:616738
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome... ORPHA:848
Masa Syndrome
Hydrocephalus, Shuffling gait, Talipes equinovarus, Pes cavus, Ventriculomegaly, Adducted thumb OMIM:303350
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Decreased testicular size, Thrombocytopenia, Adducted thumb OMIM:601815
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Impotence, Ischemic stroke, Dysphagia, Thrombocytopenia OMIM:615750
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Ataxia, Choreoathetosis, Leukopenia, Anemia, Cardiomyopathy, Lethargy, Thrombo... ORPHA:27
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Thrombocytopenia ORPHA:529
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Ventriculomegaly, Inguinal hernia, Overlapping toe, Proximal placement of thumb, Tapered finger, ... ORPHA:487796
Neonatal Lupus Erythematosus
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block, Splenomegaly... ORPHA:398124
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to... OMIM:615285
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin, Lipoatrophy, Thrombocytopenia ORPHA:141184
Noonan Syndrome 12
11 pairs of ribs, Ventriculomegaly, Proximal placement of thumb, Lymphopenia, Thrombocytopenia, S... OMIM:618624
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Hydrocephalus, Cranial hyperostosis... OMIM:259710
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Sandal gap, Thrombocytopenia, Amelogenesis imper... OMIM:617475
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Small for gestational age, Elevated diastolic blood pressure, Hypertension, Elevated systolic blo... ORPHA:275555
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Temple Syndrome
Small for gestational age, Cryptorchidism, Hydrocephalus, Small hand, Obesity, Short foot, Recurr... ORPHA:254516
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Hemolytic anemia, Clinodactyly of the 5th toe, Myocardial infarction, Anorexia, Splenomegaly, Con... ORPHA:108
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Congenital diaphragmat... ORPHA:380
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Choreoathetosis, Anemia, Neutropenia, Lethargy, Thrombocytopenia ORPHA:289916
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Small for gestational age, Increased mean platelet volume, Avascular necros... OMIM:222470
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Pancytopenia, Femur fracture, Craniosynostosis, Thrombocytopenia,... OMIM:259700
Propionic Acidemia
Pancytopenia, Dystonia, Hypoglycemia, Cerebellar hemorrhage, Osteoporosis, Anemia, Cardiomyopathy... OMIM:606054
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Ataxia, Macrothrombocytopenia, Neutropenia, Clinodactyly, Decreased platele... OMIM:603585
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Amed Syndrome, Digenic
Acute myeloid leukemia, Thrombocytopenia, Leukopenia, Attention deficit hyperactivity disorder, L... OMIM:619151
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati... OMIM:301080
Infantile Sialic Acid Storage Disease
Osteopenia, Abnormal foot morphology, Splenomegaly, Vacuolated lymphocytes, Hydrocephalus, Conges... OMIM:269920
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Platelet Signal Processing Defect
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... OMIM:173590
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Microcephaly-Micromelia Syndrome
Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,... OMIM:251230
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Neurodegeneration And Seizures Due To Copper Transport Defect
Ventriculomegaly, Short femur, Tricuspid regurgitation, Decreased CSF copper concentration, Incre... OMIM:620306
Intermediate Osteopetrosis
Cortical sclerosis, Generalized osteosclerosis, Thrombocytopenia, Hepatosplenomegaly, Osteosclero... ORPHA:210110
Femoral-Facial Syndrome
Inguinal hernia, Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Coxa vara, Abnorma... ORPHA:1988
Methylcobalamin Deficiency Type Cble
Syndactyly, Macrocytic anemia, Pancytopenia, Hydrocephalus, Osteoporosis, Hypertension, Increased... ORPHA:2169
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:598500
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Duplication of thumb phalanx, Short thumb, Anemia, Thromboc... OMIM:616435
Smith-Kingsmore Syndrome
Ventriculomegaly, Rhizomelia, Hypoglycemia, Large for gestational age, Short proximal phalanx of ... OMIM:616638
Eiken Syndrome
Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morphology, Epiph... ORPHA:79106
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thromboc... ORPHA:98850
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Generalized osteosclerosis, Hydrocephalus, Genu valgum, Abnormal e... ORPHA:53
Isolated Agammaglobulinemia
Failure to thrive, Abnormality of neutrophils, Clinodactyly of the 5th toe, Anemia, Cellulitis, A... ORPHA:229717
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Micrognathia, Cryptorchidism, Pulmonary arterial hypertension, Normochromic anem... OMIM:614857
Fried Syndrome
Hydrocephalus, Gait disturbance, Aggressive behavior ORPHA:85335
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis OMIM:123155
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Myocardial infarction, Microangiopathic hemolytic anemia, Arrhythmia, Thrombocyt... ORPHA:54057
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Impaired glucose tolerance, Splenomegaly, Postaxial hand polydactyly, Hydrocephalus, Obesity, Con... OMIM:615630
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Syndromic Diarrhea
Aortic regurgitation, Inguinal hernia, Small for gestational age, Increased mean platelet volume,... ORPHA:84064
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Mirage Syndrome
Hypergonadotropic hypogonadism, Rocker bottom foot, Hypoglycemia, Radial club hand, Cryptorchidis... OMIM:617053
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Congestive heart failure, Anemia ORPHA:163596
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Thrombocytopenia ORPHA:3327
Gaucher Disease, Type Iii
Pancytopenia, Ataxia, Splenomegaly, Decreased body weight, Thrombocytopenia OMIM:231000
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Non-Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin, Thrombocytopenia ORPHA:141179
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Micrognathia, Overweight, Crypto... OMIM:616222
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Encephalocele, Omphalocele, Rhizomelia, Postaxial polydactyly, Cryptorchidism,... OMIM:616300
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia OMIM:615085
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Inguinal hernia OMIM:261550
Ventriculomegaly, Ataxia, Small for gestational age, Abnormality of subcutaneous fat tissue, Anem... ORPHA:79325
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os... ORPHA:232
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... OMIM:231095
3-Methylglutaconic Aciduria, Type Viib
Dystonia, Rhizomelia, Ataxia, Micrognathia, Tremor, Thrombocytopenia, Congestive heart failure, F... OMIM:616271
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Schimke Immunoosseous Dysplasia
Osteopenia, Waddling gait, Pancytopenia, Small for gestational age, Transient ischemic attack, Bi... OMIM:242900
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Decreased CSF 5-me... OMIM:613839
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Increased bone mineral density, Micrognathia, Cryptorchidism, Thromb... ORPHA:1237
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia OMIM:220200
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hyperglycorrh... ORPHA:90065
Hereditary Methemoglobinemia
Small for gestational age, Athetosis, Methemoglobinemia, Limb dystonia ORPHA:621
Aicardi-Goutieres Syndrome 5
Flexion contracture, Thrombocytopenia, CSF lymphocytic pleiocytosis OMIM:612952
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Tubulonodular pericallosal lipoma, Cryptorchidism, Preaxial polydactyl... OMIM:603671
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Wilson Disease
Abnormality of the menstrual cycle, Aggressive behavior, Splenomegaly, Hypersexuality, Increased ... ORPHA:905
Metatropic Dysplasia
Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Hydrocephalus, Halberd-sha... ORPHA:2635
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Gómez-López-Hernández Syndrome
Hydrocephalus, Ataxia ORPHA:1532
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Overlap Myositis
Subluxation of the small joints of the hand, Diabetes mellitus, Raynaud phenomenon, Leukopenia, F... ORPHA:206572
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Hypertensi... OMIM:617021
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Metaphyseal sclerosis, Metaphyse... OMIM:260400
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Lig4 Syndrome
Pancytopenia, Plantar warts, Small for gestational age, Cryptorchidism, Telangiectasia, Acute lym... OMIM:606593
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c... OMIM:620076
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Ventriculomegaly, Ataxia, Neonatal hypoglycemia, Aggressive behavior, T... ORPHA:572798
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Immunodeficiency 46
Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, CSF pleocytosis, Hepatosple... ORPHA:158057
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Hydrocephalus, Polydactyly, Hernia, Leukemia, Ventriculomegaly OMIM:602501
Atelis Syndrome 1
Leukopenia, Thrombocytopenia, Anemia, Attention deficit hyperactivity disorder OMIM:620184
2,4-Dienoyl-Coa Reductase Deficiency
Ataxia, Hydrocephalus, Increased CSF lactate, Choreoathetosis, Colpocephaly, Increased CSF lysine... OMIM:616034
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Frontal encephalocele, Attention ... ORPHA:261102
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Ataxia, Cachexia, Myocardial infarction, Anorexia, Spl... ORPHA:3452
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Diabetes mellitus, Extramedullary hematopoiesis, Anemia of... ORPHA:231222
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytos... OMIM:617718
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Pediatric-Onset Graves Disease
Hyperactivity, Atrial fibrillation, Craniosynostosis, Tremor, Splenomegaly, Congestive heart fail... ORPHA:525731
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Gray Platelet Syndrome
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alph... OMIM:139090
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, Anorexia, Thrombocytop... ORPHA:824
Congenital Rubella Syndrome
Splenomegaly, Anemia, Type I diabetes mellitus, Abnormal metaphysis morphology, Thrombocytopenia ORPHA:290
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Type I diabetes mellitus, Lymp... OMIM:620365
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Large for gestational age, Flexion contracture, Tibial bowing, Hypoplastic iliac wi... ORPHA:96334
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... OMIM:617052
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Craniosynostosis, Micrognathia, Cryptorchidism, Hydroce... ORPHA:171839
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Clinodactyly, Radial deviation of finger, Micrognathia OMIM:188025
Thrombocytopenia 5
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Weight loss, Anemia, Leukop... ORPHA:507
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Splenomegaly, Anemia, Osteopetrosis, Thrombocyto... OMIM:611490
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natur... OMIM:616050
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Lethargy, Thrombocytopenia OMIM:243500
Rhabdoid Tumor
Weight loss, Anemia, Hypertension, Internal hemorrhage, Thrombocytopenia ORPHA:69077
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lipodystrophy, B lymphocytopenia, Clinodactyly, Failure to thrive, Decre... OMIM:618048
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Gastrointestinal hemorrhage, Talipes, Portal hyp... ORPHA:974
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hydrocephalus, Preaxial polydactyly, Obesity, Hypogonadism ORPHA:141333
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ventriculomegaly, Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic an... OMIM:304790
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Impulsivity, Aggressive behavior, Overweight, Cryptorchidism, Dilated third ventricle, Hydrocepha... ORPHA:500055
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventriculomegaly, Small for gestational age, Rocker bottom foot, Craniosynostosis, Coxa valga, Cr... OMIM:301056
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Thrombocytopenia, L... ORPHA:520
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Gastrointestinal hemorrhage, Increased RBC distribution width, Epistaxis, Macrothr... OMIM:187900
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Aromatase Deficiency
Osteopenia, Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic ... ORPHA:91
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Rhizomelia, Anemia OMIM:618116
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Micrognathia, Cryptorchidism, Short toe, Flexion contracture, Talipes equinova... ORPHA:98791
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Hydrocephalus, Bilateral talipes equinovarus, Ataxia OMIM:618174
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Arachnodactyly, Hydrocephalus, Shoulder dislocation, Gait disturbance, Umbi... ORPHA:2181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Inability to walk, Hydrocephalus, Flexion contracture, Abnormal left ventricular function, Calf m... OMIM:613155
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:613101
H Syndrome
Hallux valgus, Pes planus, Histiocytosis, Diabetes mellitus, Lipodystrophy, Microcytic anemia, Hy... ORPHA:168569
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Absent... OMIM:227650
Griscelli Syndrome
Encephalocele, Ataxia, Abnormality of neutrophils, Splenomegaly, Hydrocephalus, Pedal edema, Leuk... ORPHA:381
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive OMIM:129850
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hydrocephalus, Obesity, Azoospermia, Short 4th metacarpal ORPHA:2183
Alexander Disease
Increased CSF protein concentration, Hydrocephalus, Ataxia, Dysmetria OMIM:203450
Lead Poisoning
Decreased female libido, Small for gestational age, Anorexia, Abnormality of the menstrual cycle,... ORPHA:330015
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracranial hemorrhage, ... ORPHA:449285
Thyrocerebroretinal Syndrome
Ataxia, Thrombocytopenia OMIM:274240
Dominant Beta-Thalassemia
Bowing of the long bones, Extramedullary hematopoiesis, Diabetes mellitus, Decreased mean corpusc... ORPHA:231226
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Diamond-Blackfan Anemia 21
Hallux valgus, Pes planus, Aortic regurgitation, Sandal gap, Tapered finger, Micrognathia, Preaxi... OMIM:620072
Necrotizing Enterocolitis
Shock, Small for gestational age, Leukocytosis, Bradycardia, Abnormal glucose homeostasis, Neutro... ORPHA:391673
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Large for gestational age,... ORPHA:45452
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... ORPHA:3329
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Craniosynostosis, Micrognathia, Hydrocephalus, Clinodactyly of the 5th finger, Umbilical hernia ORPHA:1516
Krabbe Disease
Hydrocephalus, Failure to thrive, Increased CSF protein concentration, Autoimmune thrombocytopenia OMIM:245200
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Inability to walk, Failure to thrive, Thrombocytopenia OMIM:616577
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Central Precocious Puberty In Male
Hydrocephalus, Attention deficit hyperactivity disorder, Abnormality of the testis size, Aggressi... ORPHA:649929
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Hydrocephalus, Dilated cardiomyopathy, Flexion contracture, Gait disturb... ORPHA:272
Thrombocytopenia 1
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Joint hemorrhage, Conge... OMIM:313900
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... ORPHA:261529
Transaldolase Deficiency
Thrombocytopenia, Telangiectasia, Anemia, Hepatosplenomegaly ORPHA:101028
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Bowing of the long bones, Ataxia, Retinal telangiectasia, Metaphyseal sclerosis, Thro... OMIM:612199
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Decreased mean platelet volume OMIM:273900
Aicardi-Goutieres Syndrome 1
Inability to walk, Splenomegaly, Vasculitis, Increased CSF interferon alpha, Chronic CSF lymphocy... OMIM:225750
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia, Cerebellar hemorrhage, Leukopenia, Cardiomyopathy, Neutropenia, Lethargy, Failure t... OMIM:251000
Hydrocephalus, Craniosynostosis OMIM:148800
Beta-Thalassemia Major
Bowing of the long bones, Extramedullary hematopoiesis, Diabetes mellitus, Decreased mean corpusc... ORPHA:231214
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Hydrocephalus, Obesity, Bilateral talipes equinovarus, Polyphagia, Self-muti... OMIM:616521
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Diabetes mellitus, Decreased/absent ankle reflexes, Progressive cerebellar ataxia, ... ORPHA:1177
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Unilateral cryptorchidism, Micrognathia, Persistence of hemoglobin F, Increase... OMIM:300946
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Hydrocephalus, Clubbing, Polysplenia, Abnormal sp... ORPHA:244
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Aggressive behavior, Hydrocephalus, Agitation, Prominent fingertip pads OMIM:300558
Diamond-Blackfan Anemia 6
Macrocytic anemia, Micrognathia, Short thumb, Persistence of hemoglobin F, Mitral regurgitation, ... OMIM:612561
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Micrognathia, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior... OMIM:617101
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Ventriculomegaly, Mic... OMIM:259720
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Hyperactivity, Failure to thrive in infancy, Short prox... ORPHA:261323
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Amegakaryocytic thrombocytopenia, Radial bowing, Apl... OMIM:605432
Holocarboxylase Synthetase Deficiency
Ataxia, Anorexia, Weight loss, Lethargy, Thrombocytopenia ORPHA:79242
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Micrognathia, Cryptorchidism, Hydrocephalus, Gait disturbance, Attenti... OMIM:609757
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... OMIM:147750
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Failur... OMIM:226990
Gaucher Disease, Type I
Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral regurgitation,... OMIM:230800
Omphalocele, Talipes, Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly ORPHA:945
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... ORPHA:100026
Cryptorchidism, Failure to thrive, Thrombocytopenia ORPHA:370924
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Loss of ambulation, Failure to thrive, Premature ovarian insufficiency, Female infertility OMIM:619518
Ataxia, Failure to thrive in infancy, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ataxia, Coxa valga, Micrognathia, Aggressive behavior, Hydrocephalus, Self-injurious behavior, Ha... OMIM:619833
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Failure to thrive, Thrombocytopenia OMIM:615597
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short humerus, Short metacarpal, Tricuspid regurgitation, Noncompaction cardiomyopathy, Thrombocy... ORPHA:508542
Dandy-Walker Malformation With Postaxial Polydactyly
Microretrognathia, Dilated fourth ventricle, Postaxial hand polydactyly, Hydrocephalus, Truncal a... OMIM:220220
Pseudo-Torch Syndrome 1
Microretrognathia, Ventriculomegaly, Splenomegaly, Dystonia, Umbilical hernia, Failure to thrive,... OMIM:251290
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Micrognathia, Cryptorchidism, Hydrocephalus, Unilambdoid synostosis, Clinodactyly, Ventriculomegaly OMIM:618577
Gitelman Syndrome
Maternal diabetes, Glucose intolerance, Iron deficiency anemia, Prominent U wave, Abnormal T-wave... ORPHA:358
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Ventriculomegaly, Postaxial polydactyly, Splenomegaly, Hydrocephalus, Hip dysplasia... OMIM:614576
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size