banner
Genes Phenotypes Help, News, Blog

Gene: Gnl1 MGI:95764

Log in to follow

Gene Summary

Name:
guanine nucleotide binding protein-like 1
Synonyms:
Gna-rs1,  Gnal1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
Eye Morphology

Images Ophthalmoscopy

98 Images

View images
Eye Morphology

Images Slit Lamp

15 Images

View images
Histopathology

Images

10 Images

View images
Electrocardiogram (ECG)

Waveform Image

1 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Gross Pathology and Tissue Collection

Images

10 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View 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
phenotypes		 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
Slc35A1-Cdg
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
Pineocytoma
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
Slc35A2-Cdg
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
Malaria
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
Hyperprolactinemia
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
Lathosterolosis
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
Beta-Thalassemia
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
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Preeclampsia
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
Babesiosis
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
Delta-Beta-Thalassemia
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
Alg8-Cdg
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
Alpha-Thalassemia
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
Leishmaniasis
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
Kleeblattschaedel
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
Acalvaria
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
Stt3B-Cdg
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
Cog4-Cdg
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 ORPHA:98798
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Anemia, Talipes equinovarus, Camptodactyly, Failure to thrive, Thrombocytopenia OMIM:608104
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Diabetes mellitus, Anemia, Leukopenia, Pulmonary arterial hypertension, Failure to ... OMIM:613845
Felty Syndrome
Pericarditis, Splenomegaly, Cellulitis, Osteolysis, Weight loss, Anemia, Neutropenia, Abnormal ly... ORPHA:47612
Papillary Tumor Of The Pineal Region
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking ORPHA:251915
Primary Familial Polycythemia
Epistaxis, Polycythemia, Abnormal hemoglobin ORPHA:90042
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Absent thumb, Absent rad... OMIM:600901
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Anorexia, Hypersplenism, Thrombocytopen... ORPHA:77259
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphology, Metrorrhagia, ... ORPHA:464329
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Decreased heart rate variability, Micrognathia, Cryptorchidis... OMIM:619005
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyse... OMIM:300863
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... OMIM:603909
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Ventriculomegaly, Ataxia, Anemia, Failure to thrive, Thrombocytopenia ORPHA:3322
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Thrombocytopenia, Lateral ventricle dilatation, Bradycardia, Lethargy, Ventr... OMIM:617397
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet... OMIM:601709
Maternal Uniparental Disomy Of Chromosome 6
Inguinal hernia, Thrombocytopenia, Hydrocele testis, Slender long bone, Ventriculomegaly ORPHA:96181
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Proximal placement of thumb, Micrognathia, Cryptorchidism, Dilated cardiomyopat... ORPHA:261250
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Aplastic anemia, Hypergonadotropic hypogonadism, Absent thumb, Hydrocephalus, B... OMIM:300514
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Absent thumb, Absent rad... OMIM:227646
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Pedal ... ORPHA:86839
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Large for gestational age, Anemia, Neutropenia, Umbilical hernia, Failure to thrive, ... OMIM:614520
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Vestibular areflexia, Hypochromic microcytic anemia, Osteopetrosis, Dystonia, Th... ORPHA:3240
Alexander Disease Type I
Ataxia, Cachexia, Hydrocephalus, Dysphagia, Failure to thrive ORPHA:363717
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... ORPHA:98849
Tularemia
Thrombocytopenia, Leukocytosis, Tachycardia, Anemia ORPHA:3392
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Vasculitis, Lymphocytosis, Hemophagocytosis, Neutrop... OMIM:308240
Congenital Enterovirus Infection
Ventriculomegaly, Abnormal macrophage morphology, Myocarditis, Leukocytosis, CSF lymphocytic plei... ORPHA:292
Oculocerebral Hypopigmentation Syndrome, Preus Type
Arachnodactyly, Ataxia, Abnormality of neutrophils, Hydrocephalus, Reduced bone mineral density, ... ORPHA:2720
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology, Scarring ORPHA:398189
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Wide capital femoral epiphyses, Small for gestational age, Transient ischemic ... ORPHA:1830
Ivic Syndrome
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Leukocytosis... ORPHA:2307
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Ataxia, Tremor, Thro... OMIM:214500
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Type I diabetes mell... OMIM:301078
Fetal Gaucher Disease
Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Intracranial hemorrha... ORPHA:85212
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Ventriculomegaly, Contracture of the proximal interphalangeal joint of the 2nd finger... OMIM:612394
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
47,Xyy Syndrome
Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Hydrocephalus, Oligozoospermia, Fin... ORPHA:8
Mucopolysaccharidosis-Plus Syndrome
Thrombocytopenia, Metaphyseal widening, Splenomegaly, Clubbing, Inability to walk, Congestive hea... OMIM:617303
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Sp... OMIM:182940
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Ataxia, Avascular necrosis of the capital femoral epiphysis, Crypt... OMIM:613990
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Diencephalic Syndrome
Large hands, Hydrocephalus, Cachexia, Decreased body weight ORPHA:1672
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Metrorrhagia, Epistaxis, Impaired ADP-induced platelet aggregatio... OMIM:614074
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotension, Lethargy, T... ORPHA:99828
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral hernia, Osteomalacia,... ORPHA:198
Von Willebrand Disease, Type 3
Epistaxis, Joint hemorrhage, Menorrhagia, Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Leukocytosis, Anemia, Leukopenia, Hypotension, Thrombocytop... ORPHA:91547
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu... OMIM:613011
Biemond Syndrome Ii
Preaxial hand polydactyly, Hydrocephalus OMIM:210350
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Intracranial ... ORPHA:3226
Hemophagocytic Lymphohistiocytosis, Familial, 1
Ataxia, Splenomegaly, CSF pleocytosis, Anemia, Leukopenia, Hemophagocytosis, Failure to thrive, I... OMIM:267700
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Pericarditis, Leukopenia OMIM:152700
Braddock-Carey Syndrome 1
Small hand, Talipes equinovarus, Camptodactyly, Clinodactyly, Enamel hypoplasia, Thrombocytopenia OMIM:619980
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Pericarditis, Prolonged QTc interval, Anemia ORPHA:231111
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Epistaxis, Impaired platelet aggregation, Abnor... OMIM:601399
6P22 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Hydrocephalus, Hernia ORPHA:251046
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Braddock-Carey Syndrome 2
Clinodactyly, Thrombocytopenia OMIM:619981
Fanconi Anemia, Complementation Group C
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Absent thumb, Absent rad... OMIM:227645
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Hogue-Janssen Syndrome 2
Broad hallux, Postaxial polydactyly, Inability to walk, Hydrocephalus, Gait ataxia, Hip dysplasia... OMIM:616362
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Inguinal hernia, Intermittent thrombocytopenia, Cryptorchidism, Erythroid hypo... OMIM:612541
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Ataxia, Splenomegaly, CSF pleocytosis, Hepatosplenomegaly, Anemia, Leukopenia, Hemo... OMIM:603553
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Failure to thrive, Thrombocytope... OMIM:619644
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Micrognathia, Aggressive behavior, Noncommunicating hydrocephalus, Short foot, Compulsive... OMIM:619320
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Abnormality of thumb phalanx, Cranio... ORPHA:235
Gaucher Disease, Perinatal Lethal
Ventriculomegaly, Akinesia, Micrognathia, Splenomegaly, Dysphagia, Hepatosplenomegaly, Anemia, Op... OMIM:608013
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Ataxia, Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal ... OMIM:618476
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Fg Syndrome Type 1
Finger syndactyly, Pes planus, Broad toe, Broad-based gait, Inguinal hernia, Craniosynostosis, Mi... ORPHA:93932
X-Linked Agammaglobulinemia
Cellulitis, Weight loss, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia ORPHA:47
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Triphalangeal ... ORPHA:84
Achondroplasia
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Hydroc... ORPHA:15
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Cerebral hemorrhage, Epistaxis, Thrombocytopenia ORPHA:3002
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas... ORPHA:811
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Crypto... OMIM:258315
Poems Syndrome
Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Metaphyseal scl... ORPHA:2905
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Neutropenia, Thrombocytop... ORPHA:88
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Diamond-Blackfan Anemia 1
Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Triphalangeal thumb, Neutropeni... OMIM:105650
Central Neurocytoma
Lethargy, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus ORPHA:73256
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lipodystrophy, Splenomegaly, Flexion contracture, Anemia, Finger swelling, Pan... OMIM:617591
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Cryptorchid... OMIM:619951
Seckel Syndrome 1
11 pairs of ribs, Pes planus, Ivory epiphyses, Pancytopenia, Sandal gap, Abnormal finger flexion ... OMIM:210600
Alg12-Cdg
Ventriculomegaly, Sandal gap, Proximal placement of thumb, Micrognathia, Cryptorchidism, Long fin... ORPHA:79324
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... OMIM:300367
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate ... OMIM:263520
Pallister-Hall-Like Syndrome
Occipital encephalocele, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hy... OMIM:241800
Pettigrew Syndrome
Ventriculomegaly, Aggressive behavior, Aqueductal stenosis, Hydrocephalus, Flexion contracture, S... OMIM:304340
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... ORPHA:906
Fanconi Anemia, Complementation Group R
Anemia, Hydrocephalus, Radial dysplasia, Absent thumb OMIM:617244
Hurler Syndrome
Aortic regurgitation, Inguinal hernia, Hypoplasia of the femoral head, Coxa valga, Hypoplasia of ... OMIM:607014
Atelis Syndrome 2
Pes planus, Micrognathia, Thrombocytopenia, Hyperinsulinemia, Dysmetria, Supravalvar pulmonary st... OMIM:620185
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Hydrocephalus OMIM:258320
Thrombocytopenia 6
Myelofibrosis, Spontaneous, recurrent epistaxis, Osteoporosis, Thrombocytopenia OMIM:616937
Insulin-Resistance Syndrome Type B
Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem... ORPHA:2298
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus ... OMIM:224400
Congenital Sialidosis Type 2
Abnormal EKG, Inguinal hernia, Ataxia, Hydrocephalus, Dysmetria, Hepatosplenomegaly, Telangiectas... ORPHA:93400
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Radial bowing, Micromelia, Micrognathia, Postaxial polydactyly, Missing ribs, U... OMIM:617866
Prolidase Deficiency
Micrognathia, Splenomegaly, Diffuse telangiectasia, Anemia, Failure to thrive, Thrombocytopenia OMIM:170100
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Absent thumb, Micrognat... ORPHA:124
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Small for gestational age, Megaloblastic anemia, Anemia, Talipes equinovarus, Neutr... OMIM:277380
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Myocardial infarction, Micrognathia, Reduced bone mineral density, Glucose intoleranc... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Myocardial infarction, Micrognathia, Reduced bone mineral density, Glucose intoleranc... ORPHA:99228
Monosomy X
Osteopenia, Myocardial infarction, Micrognathia, Reduced bone mineral density, Glucose intoleranc... ORPHA:99226
Turner Syndrome
Osteopenia, Myocardial infarction, Micrognathia, Reduced bone mineral density, Glucose intoleranc... ORPHA:881
Osteogenesis Imperfecta
Osteopenia, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contracture, Abnormal fe... ORPHA:666
Emanuel Syndrome
Ventriculomegaly, Congenital hip dislocation, Multiple joint contractures, Inguinal hernia, Conge... ORPHA:96170
Hydrolethalus Syndrome 2
Micrognathia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly,... OMIM:614120
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... OMIM:617925
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, D... ORPHA:99901
Zika Virus Disease
Ankle swelling, Thrombocytopenia, Abnormal cerebrospinal fluid morphology ORPHA:448237
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Pes planus, Congenital hip dislocation, Hypoglycemia, Telangiectasia of the skin, Tap... OMIM:616007
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Knee dislocation, Shoulder dislocation... OMIM:245600
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Hydrocephalus, Hand polydactyly, C... ORPHA:60040
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Anorexia, Throm... OMIM:557000
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... ORPHA:56305
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... ORPHA:3103
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia ORPHA:90045
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Thro... OMIM:611126
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Postaxial hand polydactyly, Hydrocephalus ORPHA:83473
Transaldolase Deficiency
Pancytopenia, Small for gestational age, Splenomegaly, Hepatosplenomegaly, Anemia, Telangiectasia... OMIM:606003
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Hypertrophic cardiomyopathy, Brachydactyly ORPHA:2701
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Pes planus, Inguinal hernia, Sagittal craniosynostosis, Micrognathia, Hydrocephalus, Small hand, ... ORPHA:459061
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Osteoporosis, Palmoplantar hyperkeratosis,... OMIM:613989
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Transient ischemic attack, Myocardial infarction, Tremor, Schistocytosis, Microa... OMIM:274150
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular v... OMIM:127550
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Tremor, Anemia, Neutropenia, Lethargy, Failure to thrive, Thrombocytopenia OMIM:251100
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Dysphagia, Throm... OMIM:254900
Acrodysostosis 1 With Or Without Hormone Resistance
Short metacarpal, Brachydactyly, Small for gestational age, Cryptorchidism, Hydrocephalus, Neonat... OMIM:101800
Oculocerebrocutaneous Syndrome
Finger syndactyly, Ventriculomegaly, Congenital hip dislocation, Talipes, Congenital diaphragmati... ORPHA:1647
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Intellectual Developmental Disorder, Autosomal Recessive 68
Pes planus, Hydrocephalus, Small for gestational age OMIM:618302
Mevalonic Aciduria
Normocytic hypoplastic anemia, Ataxia, Failure to thrive in infancy, Fluctuating splenomegaly, Le... OMIM:610377
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ... OMIM:609441
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta OMIM:612783
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Epiphyseal stippling, Short distal phalanx of finger, Brachydactyly ORPHA:1914
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Micrognathia, Cryptorchidism, Hy... ORPHA:1865
Houge-Janssens Syndrome 1
Congenital hip dislocation, Hypoglycemia, Hydrocephalus, Gait ataxia, Ventriculomegaly OMIM:616355
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Hydrocephalus OMIM:300886
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Diffuse Alveolar Hemorrhage
Leukocytosis, Weight loss, Anemia, Pulmonary venous hypertension, Thrombocytopenia ORPHA:90060
Thanatophoric Dysplasia
Micromelia, Abnormal sacroiliac joint morphology, Hydrocephalus, Hip dysplasia, Abnormal ilium mo... ORPHA:2655
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Microphthalmia With Limb Anomalies
Failure to thrive, Toe syndactyly, Unilateral cryptorchidism, Sandal gap, Capitate-hamate fusion,... OMIM:206920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Anemia, Neutropenia, Lethargy, Failure to thrive, Thrombocytopenia OMIM:251110
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Immunodeficiency 22
Pericarditis, Capillary leak, Anemia, Panniculitis, Decreased proportion of CD4-positive helper T... OMIM:615758
Thanatophoric Dysplasia Type 2
Encephalocele, Micromelia, Hydrocephalus, Holoprosencephaly, Abnormal metaphysis morphology, Vent... ORPHA:93274
Tenorio Syndrome
Osteopenia, Hypoglycemia, Raynaud phenomenon, Hydrocephalus, Syncope, Gait disturbance, Hypoinsul... OMIM:616260
Acromelic Frontonasal Dysplasia
Encephalocele, Midline central nervous system lipomas, Cryptorchidism, Meningocele, Choroid plexu... ORPHA:1827
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Micrognathia, Hydrocephalus, Dysphagia, Dandy-Walker malformation, Ventriculomegaly ORPHA:163961
Emanuel Syndrome
Ventriculomegaly, Congenital hip dislocation, Torticollis, Inguinal hernia, Congenital diaphragma... OMIM:609029
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Re... ORPHA:85451
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Splenomegaly, Epistaxis, Thrombocytopenia OMIM:619463
Fanconi Anemia, Complementation Group F
Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Throm... OMIM:603467
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... ORPHA:1860
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Craniosynostosis ORPHA:1528
Functioning Gonadotropic Adenoma
Osteopenia, Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual c... ORPHA:91348
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Pes planus, Rocker bottom foot, Cryptorchidism... ORPHA:163979
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th... ORPHA:163966
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Melena, Leukopenia, Dysphagia, Lethargy, Lymphopenia, Thrombocytopenia ORPHA:319218
Edinburgh Malformation Syndrome
Micrognathia, Long fingers, Hydrocephalus, Ulnar deviation of finger, Failure to thrive, Slender ... ORPHA:1895
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia OMIM:150550
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Ataxia, Splenomegaly, CSF pleocytosis, Abnormal T cell subset distribution, Anemia,... ORPHA:158048
Acquired Purpura Fulminans
Intracranial hemorrhage, Shock, Internal hemorrhage, Thrombocytopenia ORPHA:49566
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Small for gestational age, Normochromic anemia, Bradycardia, Hypert... OMIM:618775
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Anemia, Hypoplastic spleen, Th... OMIM:185070
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Tremor, Hydrocephalus, Neutropenia, Lethargy, Failure to thrive, Thrombocyt... OMIM:277400
Farber Disease
Abnormality of the knee, Abnormal foot morphology, Short toe, Thrombocytopenia, Osteoporosis, Fle... ORPHA:333
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia ORPHA:276183
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Boutonneuse Fever
Abnormality of the plantar skin of foot, Leukopenia, Vasculitis, Thrombocytopenia ORPHA:83313
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Attention deficit hyperactivity disorder, Oligozoospermia ORPHA:3000
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... ORPHA:464321
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... OMIM:618150
Otopalatodigital Syndrome Type 2
Encephalocele, Omphalocele, Increased bone mineral density, Bowing of the long bones, Tarsal syno... ORPHA:90652
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Inability to walk, Hydrocephalus, Congestive heart failure,... ORPHA:505248
Muenke Syndrome
Tarsal synostosis, Hydrocephalus, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosi... ORPHA:53271
Mucopolysaccharidosis Type 3
Flexion contracture, Atrioventricular block, Reduced bone mineral density, Loss of ambulation, Hy... ORPHA:581
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Gracile Bone Dysplasia
Failure to thrive, Asplenia, Hydrocephalus, Flared metaphysis, Slender long bone, Hypoplastic spl... OMIM:602361
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Talipes, Micromelia, Micrognat... ORPHA:1908
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Ventriculomegaly, Anemia, Increased CSF lactate OMIM:614946
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor... ORPHA:447
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Chiari Malformation Type Ii
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy, Dysphagia OMIM:207950
Alexander Disease
Osteopenia, Diabetes mellitus, Ataxia, Sudden cardiac death, Aqueductal stenosis, Tremor, Hydroce... ORPHA:58
Glutaric Acidemia I
Hypoglycemia, Hydrocephalus, Opisthotonus, Choreoathetosis, Lateral ventricle dilatation, Dystoni... OMIM:231670
Steinert Myotonic Dystrophy
Prolonged QRS complex, Oral-pharyngeal dysphagia, Supraventricular tachycardia, Male hypogonadism... ORPHA:273
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Corpus Callosum, Partial Agenesis Of, X-Linked
Pes planus, Hydrocephalus, Ventriculomegaly, Dislocated radial head OMIM:304100
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Hydrocephalus, Flar... OMIM:187600
Muscular Dystrophy, Duchenne Type
Waddling gait, Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles te... OMIM:310200
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Splenomegaly, Anemia, Leukopenia... ORPHA:64743
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Ventriculomegaly, Ataxia, Postural tremor, Limb joint contracture, Tapered finger, Splenomegaly, ... OMIM:301072
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Tricuspid regurgitation, Hypop... OMIM:253200
Osteootohepatoenteric Syndrome
Avascular necrosis of the capital femoral epiphysis, Hydrocephalus, Reduced bone mineral density,... OMIM:619377
Cholesteryl Ester Storage Disease
Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepat... OMIM:278000
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Lathosterolosis
Toe syndactyly, Talipes, Micrognathia, Postaxial hand polydactyly, Meningocele, Anisopoikilocytos... ORPHA:46059
Combined Oxidative Phosphorylation Deficiency 55
Ventriculomegaly, Anemia, Talipes equinovarus, Hypophosphatemic rickets, Thrombocytopenia, Genu v... OMIM:619743
Multiple Sulfatase Deficiency
Broad hallux, Ataxia, Splenomegaly, Hydrocephalus, Hypoplastic vertebral bodies, Increased CSF pr... OMIM:272200
Cousin Syndrome
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... OMIM:260660
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Adipose tissue loss, Flexion contracture, Loss of facial adipose tissue, Finge... OMIM:256040
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Genu recurvatum, Lower limb asymmetry, Splenomeg... ORPHA:2969
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Pes planus, Hyperextensibility of the finger joints, Lateral... OMIM:616914
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Gaucher Disease
Osteopenia, Increased bone mineral density, Pancytopenia, Ataxia, Ventriculomegaly, Tremor, Throm... ORPHA:355
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hypertension, Throm... ORPHA:79124
Triploidy
Omphalocele, Finger syndactyly, Micrognathia, Cryptorchidism, Hydrocephalus, Meningocele, Holopro... ORPHA:3376
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Hitchhiker thumb, Spina bifida, Micrognathia, Myelomeningoce... ORPHA:2437
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Abnormal foot morphology, Hydrocephalus, Aortic valve stenosis OMIM:615599
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Micrognathia, Talipes calcaneovalgus, Hip dysplasia, Arthrogryposis mu... OMIM:208085
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ... ORPHA:331206
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Leukocytosis, Hypertension, Congenital thrombocytopenia, Anemia OMIM:618886
Tetrasomy 5P
Pericallosal lipoma, Overlapping toe, Short hallux, Micrognathia, Long fingers, Hydrocephalus, Co... ORPHA:3309
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cryptorchidism, Hydrocephalus, Drumstick terminal phalanges, Umbilical hernia, Hypertrophic cardi... OMIM:612938
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Ataxia, Megaloblastic anemia, Pulmonary embolism, Hydrocephalus, Dilated cardiomyop... ORPHA:79282
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochro... OMIM:616084
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Pulmonary embolism, Intracranial hemorrhage, Neutrophilia, Ankle swelling, Raynaud... ORPHA:3260
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Self-injurious behavior, Limb dystonia, Abnormal repetitive mannerisms, Thromb... ORPHA:457351
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Good Syndrome
Abnormal leukocyte morphology, Diabetes mellitus, Anemia, Dysphagia, Thrombocytopenia ORPHA:169105
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Limb dystonia, Dystonia, Ataxia, Tremor, Subdural hemorrhage, Retina... ORPHA:25
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Talipes, Akinesia, Micrognathia, Hydrocephalus, Hydranencephaly, Joint contract... OMIM:225790
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
L1 Syndrome
Aqueductal stenosis, Hydrocephalus, Gait disturbance, Adducted thumb ORPHA:275543
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Ataxia, Epistaxis, Tremor, Thrombocytopenia, Splenom... ORPHA:167
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Hydrocep... OMIM:100800
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Icf Syndrome
Communicating hydrocephalus, Abnormality of neutrophils, Micrognathia, Umbilical hernia, Lymphope... ORPHA:2268
Sepsis In Premature Infants
Tachycardia, Small for gestational age, Splenomegaly, Leukocytosis, Anemia, Bradycardia, Hypotens... ORPHA:90051
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, CSF pleocytosis, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia ORPHA:540
Ventriculomegaly With Defects Of The Radius And Kidney
Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Fo... OMIM:602200
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Metaphyseal widening, Neutropenia, Failure to thrive, Metaph... OMIM:617941
Congenital Myopathy 22A, Classic
Waddling gait, Hip contracture, Tricuspid regurgitation, Talipes, Micrognathia, Achilles tendon c... OMIM:620351
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Dyspareunia, Abnormality of neutrophils, Myocardial infarction, Sudd... ORPHA:36426
Noonan Syndrome 4
Large for gestational age, Cryptorchidism, Pulmonic stenosis, Hypertrophic cardiomyopathy, Thromb... OMIM:610733
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Testicular atrophy, Thrombocytopenia OMIM:613987
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Overlapping toe, Micrognathia, Abnormal foot morphology, Hydrocephalus, Cutaneo... OMIM:617822
Gaucher Disease Type 3
Increased bone mineral density, Pancytopenia, Ataxia, Splenomegaly, Osteolysis, Anemia, Gait dist... ORPHA:77261
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn... OMIM:227270
Ogden Syndrome
Congenital hip dislocation, Maternal diabetes, Micrognathia, Ventricular tachycardia, Iron defici... OMIM:300855
Gorlin Syndrome
Arachnodactyly, Hypogonadotropic hypogonadism, Cryptorchidism, Hydrocephalus, Plantar pits, Brach... ORPHA:377
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia OMIM:612924
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Inguinal hernia, Toe syndactyly, Cryptorchidism, Hydrocephalus, Short foot,... ORPHA:250989
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Gait disturbance, Holoprosencephaly ORPHA:588
Trisomy 1Q
Microretrognathia, Omphalocele, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenit... ORPHA:261344
Myopathy, Centronuclear, X-Linked
Arachnodactyly, Cryptorchidism, Hydrocephalus, Flexion contracture, Slender toe, Dandy-Walker mal... OMIM:310400
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Retrog... ORPHA:230
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Tapered finger, Absent frontal sinuses, Cryptorchidism, Coxa valga, Reduced alpha/beta synthesis ... OMIM:301040
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Wilson Disease
Limb dystonia, Hemolytic anemia, Dystonia, Osteomalacia, Tremor, Thrombocytopenia, Splenomegaly, ... OMIM:277900
Hyperparathyroidism, Transient Neonatal
Osteopenia, Communicating hydrocephalus, Inguinal hernia, Short femur, Metaphyseal spurs, Femoral... OMIM:618188
Short-Rib Thoracic Dysplasia 12
Omphalocele, Inguinal hernia, Hypoplastic scapulae, Bowing of the legs, Splenomegaly, Short toe, ... OMIM:269860
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Pes planus, Inguinal hernia, Genu recurvatum, Arachnodactyly, Craniosynostosis, Micro... OMIM:182212
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Spontaneous, recurrent epistaxis, Pancytopenia, Broad-based gait, Ventriculomegaly... ORPHA:2072
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Tapered finger, Spina b... OMIM:613776
Hydrolethalus Syndrome 1
Accessory spleen, Omphalocele, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyl... OMIM:236680
Deeah Syndrome
Decreased hemoglobin concentration, Decreased heart rate variability, Neonatal hypoglycemia, Cryp... OMIM:619004
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Bilateral cryptorchidism, Hydrocephalus, Bone cyst, Flexion contracture, Osteoly... ORPHA:3042
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
11 pairs of ribs, Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Tapered finger, M... OMIM:620005
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus, Craniosynostosis OMIM:612247
Adams-Oliver Syndrome 2
Micrognathia, Hydrocephalus, Lateral ventricle dilatation, Absent distal phalanges, Short middle ... OMIM:614219
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Cryptorchidism, Hydrocephalus, Ab... ORPHA:1812
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hydrocephalus, Hypogonadism, Obesity OMIM:601794
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Micromelia, Micrognathi... OMIM:612651
B4Galt1-Cdg
Splenomegaly, Hydrocephalus, Small for gestational age, Dandy-Walker malformation ORPHA:79332
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Rocker bottom foot, Hydrocephalus, Telangiectasia, Short 2nd toe, Hip dysplasia, Clino... OMIM:612582
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... ORPHA:158061
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal dental enamel morphology, Hydrocephalus, Obesity, Brachydactyly ORPHA:2180
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Pes planus, Toe syndactyly, Talipes, Spina bifida, Missi... ORPHA:2308
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Rhizomelia, Congestive heart failure, Hydrocephalus, Irregular menstruation, Tibial bowing, Femor... OMIM:616482
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Neuroleptic Malignant Syndrome
Tachycardia, Hypertensive crisis, Oculogyric crisis, Pulmonary embolism, Tremor, Leukocytosis, Hy... ORPHA:94093
Joubert Syndrome
Encephalocele, Ataxia, Tremor, Hydrocephalus, Hand polydactyly, Gait disturbance, Foot polydactyly ORPHA:475
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Hydrocephalus, Lateral ventric... OMIM:612301
Cyclic Neutropenia
Cyclic neutropenia, Cellulitis, Decreased eosinophil count, Lymphopenia, Thrombocytopenia ORPHA:2686
Pontocerebellar Hypoplasia, Type 7
Ataxia, Micrognathia, Cryptorchidism, Hydrocephalus, Opisthotonus, Choreoathetosis, Ventriculomegaly OMIM:614969
3C Syndrome
Finger syndactyly, Ventriculomegaly, Inguinal hernia, Missing ribs, Micrognathia, Hydrocephalus, ... ORPHA:7
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Recon Progeroid Syndrome
Arachnodactyly, Proximal placement of thumb, Thrombocytopenia, Long thumb, Anemia OMIM:620370
Lowry-Maclean Syndrome
Osteopenia, Inguinal hernia, Craniosynostosis, Micrognathia, Bilateral cryptorchidism, Congenital... ORPHA:2409
Cole-Carpenter Syndrome 1
Osteopenia, Communicating hydrocephalus, Micrognathia, Hydrocephalus, Reduced bone mineral densit... OMIM:112240
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Cryptorchidism, Flexion contracture, Self-injurious behavior, Talipes equino... ORPHA:847
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Inguinal hernia, Ataxia, Portal hypertension, Tremor, Splenomegaly, Post... ORPHA:1454
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Splenomegaly, Hypocalcification of dental enamel, Thrombocytopenia, Amelogenesi... ORPHA:169090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s... ORPHA:93259
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Ataxia, Hydrocephalus, Polydactyly, Complete duplication of... ORPHA:59315
Ritscher-Schinzel Syndrome 1
Syndactyly, Missing ribs, Micrognathia, Hydrocephalus, Pulmonic stenosis, Aortic valve stenosis, ... OMIM:220210
Lujo Hemorrhagic Fever
Shock, Resting tremor, Myocarditis, Leukocytosis, Subconjunctival hemorrhage, Leukopenia, Bradyca... ORPHA:319213
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia OMIM:619769
Jacobsen Syndrome
Missing ribs, Micrognathia, Cryptorchidism, Hydrocephalus, Flexion contracture, Holoprosencephaly... OMIM:147791
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Abnormality of the knee, Congenital diaphragmatic hernia, Missing ribs, Micrognathia... ORPHA:1834
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Congestiv... ORPHA:391487
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Howell-Jolly bodies, Jaw claudication, Weight loss, Ab... ORPHA:85443
Joubert Syndrome 14
Encephalocele, Ataxia, Postaxial polydactyly, Hydrocephalus, Meningocele, Intracranial hemorrhage... OMIM:614424
Pseudoaminopterin Syndrome
Micrognathia, Asplenia, Patchy reduction of bone mineral density, Synostosis of carpal bones, Pos... ORPHA:221120
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Short metacarpal, Abnormal metacarpal epiphysis morphology, ... ORPHA:95699
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Pfeiffer Syndrome
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... OMIM:101600
7Q11.23 Microduplication Syndrome
Pes planus, Inguinal hernia, Collectionism, Hyperactivity, Craniosynostosis, Micrognathia, Congen... ORPHA:96121
Desmosterolosis
Increased bone mineral density, Talipes, Micromelia, Micrognathia, Metatarsus adductus, Splenomeg... ORPHA:35107
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Inguinal hernia, Hydrocephalus,... OMIM:612940
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Absent frontal sinuses, Hernia, Decreased skull ossification, Partial a... ORPHA:955
Cornelia De Lange Syndrome 1
Inguinal hernia, Micromelia, Micrognathia, Proximal placement of thumb, Cryptorchidism, Congenita... OMIM:122470
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Premature ovarian insufficiency, Sandal... OMIM:251260
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:235400
Joubert Syndrome With Ocular Defect
Encephalocele, Ataxia, Tremor, Hydrocephalus, Hand polydactyly, Gait disturbance, Foot polydactyly ORPHA:220493
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Hydrocephalus, Flexion... OMIM:207410
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Incre... ORPHA:244242
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Aicardi-Goutières Syndrome
Diabetes mellitus, Multiple joint contractures, Lipoatrophy, Neonatal alloimmune thrombocytopenia... ORPHA:51
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Fasciitis, Abnormality of the lower limb, Myocarditis, Increased circulating ... ORPHA:36234
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Encephaloc... OMIM:108720
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormal foot morphology, Hydrocephalus ORPHA:397951
Coccidioidomycosis
Pericarditis, Eosinophilia, Abnormality of the spleen, Hydrocephalus, CSF pleocytosis, Vasculitis... ORPHA:228123
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachydactyly, Hydrocephalus, Abnormal metacarpal morphology ORPHA:93262
Acute Radiation Syndrome
Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia ORPHA:454831
Pentalogy Of Cantrell
Encephalocele, Omphalocele, Talipes, Congenital diaphragmatic hernia, Abnormal tibia morphology, ... ORPHA:1335
Joubert Syndrome With Renal Defect
Encephalocele, Ataxia, Tremor, Hydrocephalus, Hand polydactyly, Gait disturbance ORPHA:220497
Mucopolysaccharidosis, Type Vii
Metatarsus adductus, Hypoplasia of the odontoid process, Splenomegaly, Hydrocephalus, Flexion con... OMIM:253220
Omodysplasia 2
Dyspareunia, Short humerus, Micrognathia, Cryptorchidism, Fibular hypoplasia, Hypoplastic distal ... OMIM:164745
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Tapered finger, Short toe, Hydrocephalus, Athetosis, Delayed ossification of carpal bones, Short ... OMIM:239300
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Micrognathia, Metatarsus adductus, Inability to walk, Small hand, Ge... ORPHA:300570
Cockayne Syndrome A
Tremor, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac wing,... OMIM:216400
Shigellosis
Hypoglycemia, Failure to thrive in infancy, Anorexia, Myocarditis, Leukocytosis, Hypovolemic shoc... ORPHA:810
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Splenomegaly, Ankle clonus, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:308230
Castleman Disease
Myelofibrosis, Weight loss, Anemia, Decreased mean corpuscular volume, Restrictive cardiomyopathy... ORPHA:160
Distal Triplication 15Q
Arachnodactyly, Craniosynostosis, Micrognathia, Large for gestational age, Hydrocephalus, Flexion... ORPHA:314588
Pearson Syndrome
Reticulocytosis, Pancytopenia, Diabetes mellitus, Ataxia, Small for gestational age, Cardiac cond... ORPHA:699
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Calf muscle pseudohypertrophy, Hydrocephalus, ... ORPHA:370959
Monosomy 18Q
Pes planus, Left-to-right shunt, Arachnodactyly, Tapered finger, Bilateral cryptorchidism, Conges... ORPHA:1600
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Leukocytosis, Thrombocytopenia ORPHA:83601
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Splenomegaly, Impaired ADP-induced platelet aggregation, Hepatosp... OMIM:608233
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia ORPHA:93552
Shprintzen-Goldberg Syndrome
Osteopenia, Pes planus, Bowing of the long bones, Communicating hydrocephalus, Arachnodactyly, Ca... ORPHA:2462
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Osteoporosis, Palmoplantar hyperkeratosis, Thrombocytopenia OMIM:224230
Mohr Syndrome
Syndactyly, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrocephalus, F... OMIM:252100
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Marburg Hemorrhagic Fever
Shock, Reticulocytosis, Lymphopenia, Tachycardia, Hypoglycemia, Pericarditis, Anorexia, Aggressiv... ORPHA:99826
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Arachnodactyly, Oste... ORPHA:536467
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... OMIM:304120
Marshall-Smith Syndrome
Large sternal ossification centers, Bilateral cryptorchidism, Distal widening of metacarpals, Cox... OMIM:602535
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Craniosynostosis, Tremor, Splenomegaly, Hydrocephalus, Reduced bone min... ORPHA:667
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Bresek Syndrome
Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Decreased testicular size ORPHA:85284
Alpha-Mannosidosis, Infantile Form
Osteopenia, Communicating hydrocephalus, Pancytopenia, Aortic regurgitation, Ataxia, Craniosynost... ORPHA:309282
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dent... ORPHA:2658
Cole-Carpenter Syndrome 2
Osteopenia, Microretrognathia, Hydrocephalus, Lambdoidal craniosynostosis, Coronal craniosynostos... OMIM:616294
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, Hydrocephalus, 2-3 toe syndactyly, Knee flexion contracture, Irreg... OMIM:618162
Apert Syndrome
Syndactyly, Finger syndactyly, Broad distal hallux, Craniosynostosis, Sagittal craniosynostosis, ... OMIM:101200
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Pedal edema, Left bund... ORPHA:75565
Dyskeratosis Congenita
Diabetes mellitus, Telangiectasia of the skin, Abnormality of neutrophils, Thrombocytopenia, Sple... ORPHA:1775
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Hip dislocation, Ventriculomegaly, Coxa valga OMIM:109120
Holoprosencephaly
Encephalocele, Omphalocele, Diabetes mellitus, Hypoglycemia, Talipes, Failure to thrive in infanc... ORPHA:2162
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Spontaneous hemolytic crises, Ataxia, Hepatosplenomegaly, Stomatocyt... ORPHA:168577
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Failure to thrive, Retinal telangiectasia, Micrognathia OMIM:620157
Vexas Syndrome
Macrocytic anemia, Arteritis, Thrombocytopenia OMIM:301054
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... ORPHA:958
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab... ORPHA:3472
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Coach Syndrome 2
Hypertension, Hydrocephalus OMIM:619111
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Hydrocephalus, Knee flexion contracture, Mitral regurgitation, Ventriculom... OMIM:603387
Mucopolysaccharidosis, Type Ii
Inguinal hernia, Splenomegaly, Hydrocephalus, Split hand, Congestive heart failure, Flexion contr... OMIM:309900
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Gastrointestinal hemorrhage, Primary testicular failure, Congestive heart failu... ORPHA:85450
Avian Influenza
Leukopenia, Lymphopenia, Congestive heart failure, Thrombocytopenia ORPHA:454836
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Congenital hip dislocation, Micrognathia, Aqueductal stenosis, Cryptorchidism, Lon... OMIM:619512
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tics, Compulsive behaviors, Decreased body weight, Abnormal repetitive mannerisms, Intention trem... OMIM:619475
Smith-Lemli-Opitz Syndrome
Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc... OMIM:270400
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia,... ORPHA:1788
Medulloblastoma
Ataxia, Hydrocephalus, Cerebellar hemorrhage, Dysmetria, Progressive cerebellar ataxia, Lethargy,... ORPHA:616
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Abnormal metaphysis morphology, Ataxia, Communicating hydrocephalus ORPHA:1861
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Portal hypertension, Splenomegaly, Failure to thrive, Thrombocytopenia OMIM:251880
Dextrocardia
Abnormal EKG, Congenital hip dislocation, Abnormal foot morphology, Abnormality of the spleen, Hy... ORPHA:1666
Opitz-Kaveggia Syndrome
Syndactyly, Inguinal hernia, Multiple joint contractures, Broad hallux, Micrognathia, Cryptorchid... OMIM:305450
Oculocerebrorenal Syndrome Of Lowe
Micrognathia, Compulsive behaviors, Abnormal repetitive mannerisms, Osteomalacia, Abnormal dental... ORPHA:534
Q Fever
Pericarditis, Anorexia, Splenomegaly, Myocarditis, Vasculitis, Weight loss, Anemia, Hepatosplenom... ORPHA:781
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Leukocytosis, Capillary leak, Intracranial hemorrhage... ORPHA:340
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm OMIM:613807
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Sudden cardiac death, Dysphagia, Weight loss, Anemia, Neutropenia, P... ORPHA:537
Hydrolethalus
Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Anencephaly ORPHA:2189
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... OMIM:210710
Craniofacial Dyssynostosis With Short Stature
Cryptorchidism, Hydrocephalus, Ventriculomegaly OMIM:218350
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu... ORPHA:79277
Mucopolysaccharidosis Type 1
Inguinal hernia, Splenomegaly, Hydrocephalus, Split hand, Congestive heart failure, Hypertrophic ... ORPHA:579
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Radial club hand, Hydrocephalus, Absent thumb OMIM:276950
Fibrochondrogenesis 1
Omphalocele, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypop... OMIM:228520
Rift Valley Fever
Anorexia, Hematemesis, CSF pleocytosis, Retinal hemorrhage, Anemia, Melena, Thrombocytopenia ORPHA:319251
Mogs-Cdg
Hepatosplenomegaly, Hydrocele testis, Dystonia, Overlapping fingers, Thrombocytopenia ORPHA:79330
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Absent thumb, Absent radius, Micrognathia, Hydrocephalus, Bilateral talipes e... OMIM:614083
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Leukopenia, Internal hemorrhag... ORPHA:99827
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Adducted thumb ORPHA:2182
Crouzon Syndrome
Hydrocephalus, Multiple suture craniosynostosis ORPHA:207
22Q11.2 Deletion Syndrome
Micrognathia, Hypoplasia of the thymus, Arachnodactyly, Abnormal dental enamel morphology, Spina ... ORPHA:567
Holocarboxylase Synthetase Deficiency
Lethargy, Thrombocytopenia OMIM:253270
15Q Overgrowth Syndrome
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnoda... ORPHA:314585
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus, Gait disturbance OMIM:236690
Gaucher Disease, Type Ii
Splenomegaly, Anemia, Dysphagia, Failure to thrive, Thrombocytopenia OMIM:230900
Friedreich Ataxia
Abnormal EKG, Diabetes mellitus, Ataxia, Congestive heart failure, Limb ataxia, Gait ataxia, Aref... OMIM:229300
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Unsteady gait OMIM:617542
Trisomy 17P
Talipes, Tapered finger, Micrognathia, Hydrocephalus, Flexion contracture, Clinodactyly of the 5t... ORPHA:261290
Aase-Smith Syndrome I
Hydrocephalus, Flexion contracture, Talipes equinovarus, Slender finger, Dandy-Walker malformation OMIM:147800
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Aqueductal stenos... OMIM:154400
Cerebral Visual Impairment
Hydrocephalus, Intracranial hemorrhage, Ischemic stroke, Attention deficit hyperactivity disorder... ORPHA:447788
Hydrocephalus, Congenital, X-Linked
Aqueductal stenosis, Thumb contracture, Hydrocephalus, Adducted thumb OMIM:307000
Blue Rubber Bleb Nevus
Iron deficiency anemia, Intestinal bleeding, Thrombocytopenia OMIM:112200
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Splenomegaly, Hydrocephalus, T... OMIM:115150
Lysinuric Protein Intolerance
Splenomegaly, Osteoporosis, Anemia, Leukopenia, Truncal obesity, Hemophagocytosis, Failure to thr... OMIM:222700
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Ataxia, Small for gestational age, Tremor, Cryptorchidism, S... OMIM:133540
Mosaic Variegated Aneuploidy Syndrome 1
Ventriculomegaly, Small for gestational age, Micrognathia, Cryptorchidism, Hydrocephalus, Short s... OMIM:257300
Mend Syndrome
Hyperactivity, Broad hallux, Overlapping toe, Micrognathia, Aggressive behavior, Cryptorchidism, ... ORPHA:401973
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Micrognathia, Hydrocephalus, Colpocephaly, Congenital contracture, Ventriculomegaly, Brachydactyly OMIM:620156
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Hydrocephalus, Dandy-Walker malformation, Ventriculo... OMIM:617281
Meckel Syndrome, Type 3
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P... OMIM:607361
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, ... OMIM:611134
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Hydrocephalus, Osteopathia... OMIM:300373
Joubert Syndrome With Oculorenal Defect
Encephalocele, Ataxia, Hydrocephalus, Hand polydactyly, Foot polydactyly ORPHA:2318
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Severe failure to thrive, HbH hemoglobin ORPHA:423479
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Tricuspid regurgitation, Sandal gap, Hydrocephalus, Small hand, Lat... OMIM:612863
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thrombocytopenia, Melen... ORPHA:853
Immunodeficiency 40
T lymphocytopenia, Thrombocytopenia OMIM:616433
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Pes planus, Overweight, Dilated third ventricle, Hydrocephalus, Head-banging, Hematochezia, Self-... OMIM:619575
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Corneal scarring, Atypical scarring of sk... OMIM:263700
Optic Pathway Glioma
Hydrocephalus ORPHA:2086
Hajdu-Cheney Syndrome
Osteopenia, Inguinal hernia, Micrognathia, Absent frontal sinuses, Cryptorchidism, Hydrocephalus,... OMIM:102500
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea OMIM:110100
Bloom Syndrome
Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Premature... ORPHA:125
Brucellosis
Pericarditis, Small for gestational age, Transient ischemic attack, Anorexia, Orchitis, Hypersple... ORPHA:1304
Hurler Syndrome
Angina pectoris, Camptodactyly of finger, Splenomegaly, Hydrocephalus, Narrow pelvis bone, Abnorm... ORPHA:93473
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia ORPHA:99867
Mend Syndrome
Microretrognathia, Hyperactivity, Broad hallux, Overlapping toe, Micrognathia, Cryptorchidism, Lo... OMIM:300960
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Abnormal atrioventricular valve physiology, Right... ORPHA:1329
Diabetic Embryopathy
Cryptorchidism, Hydrocephalus, Spinal dysraphism, Micrognathia ORPHA:1926
Trisomy 8P
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Multiple joint contractures, Cl... ORPHA:264450
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Hematemesis, Splenomegaly, Vasculitis, Weight loss, Anemia, Hemat... OMIM:615846
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Micrognathia, Missing ribs, Cryptorchidism, Hydrocephalus, Aplasia... ORPHA:3301
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... ORPHA:140
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Craniosynostosis, Palmoplantar cutis gyrata, Cryptorchidism, Hydrocephalus, Hypertension, Palmopl... ORPHA:1555
Melanosis, Neurocutaneous
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation OMIM:249400
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Ataxia, Abnormal T-wave, ST segment depression, Hypotension, Lethargy, Abn... ORPHA:466650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Exaggerated startle response, Hydrocephalus, Dilated cardiomyopathy, Flexion contr... OMIM:253800
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Prolonged PR interval OMIM:108900
Lateral Meningocele Syndrome
Inguinal hernia, Micrognathia, Cryptorchidism, Hydrocephalus, Meningocele, Keloids, Sclerosis of ... OMIM:130720
Tick-Borne Encephalitis
Anorexia, Tremor, CSF pleocytosis, Leukocytosis, Leukopenia, Dysphagia, Thrombocytopenia ORPHA:297
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Hydroc... ORPHA:2075
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Encephalocele, Omphalocele, Cryptorchidism, Postaxial hand polydactyly, Hydroce... OMIM:264480
Dural Sinus Malformation
Ataxia, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Cerebellar hemor... ORPHA:97339
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Ataxia, Abnormal foot morphology, Postaxial hand... OMIM:608091
Tetrasomy 15Q26
Microretrognathia, Arachnodactyly, Hydrocephalus, Camptodactyly, Dandy-Walker malformation OMIM:614846
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... OMIM:164900
Ciliary Dyskinesia, Primary, 1
Male infertility, Communicating hydrocephalus, Absent frontal sinuses, Asplenia OMIM:244400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus OMIM:615181
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Abnormal cortical bone morphology, Decreased body weight OMIM:614886
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Slender long bone, Hydrocephalus, Right bundle branch block OMIM:618590
Multiple Sulfatase Deficiency
Splenomegaly, Broad hallux phalanx, Hydrocephalus, Broad thumb ORPHA:585
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Subarachnoid hemorrhage, Inability to walk, Hydr... ORPHA:2356
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ataxia, Hydrocephalus, Gait disturbance, Lethargy, Failure to thrive, Ventriculomegaly ORPHA:395
Nephronophthisis 18
Hypertension, Hydrocephalus OMIM:615862
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Desmosterolosis
Rhizomelia, Micrognathia, Generalized osteosclerosis, Hydrocephalus, Joint contracture of the han... OMIM:602398
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Walker-Warburg Syndrome
Cryptorchidism, Hydrocephalus, Metatarsus valgus, Dandy-Walker malformation, Ventriculomegaly ORPHA:899
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Hypertension, Microangiopat... ORPHA:90038
Meckel Syndrome, Type 1
Occipital encephalocele, Micrognathia, Asplenia, Dandy-Walker malformation, Accessory spleen, Syn... OMIM:249000
Radial Aplasia, X-Linked
Absent radius, Hydrocephalus OMIM:312190
Craniopharyngioma
Hypogonadotropic hypogonadism, Myocardial infarction, Hydrocephalus, Obesity, Hypogonadism, Type ... ORPHA:54595
Neurofibromatosis Type 1
Ataxia, Cryptorchidism, Hydrocephalus, Genu valgum, Chronic myelogenous leukemia, Slender long bo... ORPHA:636
Kikuchi-Fujimoto Disease
Ataxia, Anorexia, Splenomegaly, Myocarditis, Vasculitis, Weight loss, Anemia, Leukopenia, Lymphoc... ORPHA:50918
Peho Syndrome
Tapered finger, Hydrocephalus, Flexion contracture, Pedal edema, Arthrogryposis multiplex congeni... ORPHA:2836
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Flexion contracture, Hypoplasia of the thymus, Dandy-Walker malformation, Intention... OMIM:264090
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Splenomegaly, Leukopenia, Failure t... OMIM:300972
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Micrognathia, Anemia, Leukopenia, Elliptocytosis, Osteopetrosis, Pulmonary arterial... ORPHA:2785
Aymé-Gripp Syndrome
Pericarditis, Inguinal hernia, Rocker bottom foot, Craniosynostosis, Tapered finger, Congenital d... ORPHA:1272
Vacterl With Hydrocephalus
Absence of the sacrum, Inguinal hernia, Femoral hernia, Spina bifida, Micrognathia, Aqueductal st... ORPHA:3412
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Hydrocephalus, Mitral stenosis, Pes cavus OMIM:231005
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Hydrocephalus, Hy... ORPHA:87
Iniencephaly
Encephalocele, Omphalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Congenital diaphragmati... ORPHA:63259
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi... OMIM:200980
Encephalocraniocutaneous Lipomatosis
Subcutaneous lipoma, Cryptorchidism, Hydrocephalus, Lipoma, Multiple central nervous system lipom... OMIM:613001
Amelocerebrohypohidrotic Syndrome
Hydrocephalus, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1946
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Proximal placement of thumb, Absent radius, Hydrocephalus, Hand polydactyly OMIM:314390
Charge Syndrome
Omphalocele, Hypoplasia of the ulna, Hypogonadotropic hypogonadism, Down-sloping shoulders, Micro... OMIM:214800
Focal Dermal Hypoplasia
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... OMIM:305600
Hec Syndrome
Communicating hydrocephalus, Cardiomyopathy, Arrhythmia, Vaginal hydrocele ORPHA:2119
Congenital Disorder Of Glycosylation, Type Iiw
Pes planus, Inguinal hernia, Microcytic anemia, Micrognathia, Thrombocytopenia, Splenomegaly, Ost... OMIM:619525
Raine Syndrome
Increased bone mineral density, Bowing of the long bones, Micromelia, Micrognathia, Hydrocephalus... OMIM:259775
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Inguinal hernia, Hyperactivity, Impulsivity, Aggressive behavior, Sp... ORPHA:580
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... ORPHA:2879
Lysinuric Protein Intolerance
Osteopenia, Thrombocytopenia, Osteoporosis, Hepatosplenomegaly, Leukopenia, Hemophagocytosis, Ora... ORPHA:470
Sarcoidosis
Hemolytic anemia, Abnormal cardiac ventricular function, Eosinophilia, Abnormal cerebrospinal flu... ORPHA:797
Koolen-De Vries Syndrome Due To A Point Mutation
Calcaneovalgus deformity, Positional foot deformity, Prominent fingertip pads, Arachnodactyly, Sp... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Calcaneovalgus deformity, Positional foot deformity, Prominent fingertip pads, Arachnodactyly, Sp... ORPHA:363958
Sturge-Weber Syndrome
Conjunctival telangiectasia, Pulmonary embolism, Hydrocephalus, Hyperostosis, Attention deficit h... ORPHA:3205
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Cryptorchidism, Hydrocephalus, Holoprosencephaly ORPHA:77298
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Tremor, Hypoplastic vertebral bodies, Loss of facial adipose tissue, Long toe, Hypogo... ORPHA:3455
Axenfeld-Rieger Syndrome, Type 2
Cryptorchidism, Hydrocephalus, Umbilical hernia, Inguinal hernia OMIM:601499
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Ataxia, Cryptorchidism, Thrombocytopenia, Osteoporosis, Leu... OMIM:305000
Tetrasomy 9P
Micrognathia, Inappropriate behavior, Clinodactyly of the 5th finger, Dandy-Walker malformation, ... ORPHA:3310
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Attention deficit hypera... ORPHA:647
Wolf-Hirschhorn Syndrome
Accessory spleen, Pseudoepiphyses of the metacarpals, Small for gestational age, Short hallux, Mi... OMIM:194190
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Cardiofaciocutaneous Syndrome
Failure to thrive in infancy, Abnormal morphology of ulna, Cryptorchidism, Hydrocephalus, Genu va... ORPHA:1340
Kinsship Syndrome
Osteopenia, Pes planus, Ventriculomegaly, Micrognathia, Coxa valga, Hip dislocation, Bruxism, Fib... OMIM:619297
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microretrognathia, Tapered finger, Intraventricular hemorrhage, Hydrocephalus, Hydrocele testis, ... OMIM:613603
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Rabin-Pappas Syndrome
Failure to thrive in infancy, Retinal telangiectasia, Micrognathia, Hydrocephalus, Obesity OMIM:620155
Isotretinoin-Like Syndrome
Inguinal hernia, Micrognathia, Hydrocephalus, Aortic valve stenosis, Lymphopenia ORPHA:2306
Monosomy 9Q22.3
Hyperactivity, Large for gestational age, Hydrocephalus, Plantar pits, Polydactyly, Umbilical her... ORPHA:77301
Meckel Syndrome
Accessory spleen, Encephalocele, Bowing of the long bones, Talipes, Micrognathia, Asplenia, Crypt... ORPHA:564
Tibial Hemimelia
Absent tibia OMIM:275220
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Heart block, Hydrocephalus, Cardiomyopathy, Arrhythmia, Ventriculomegaly, Hypoketotic hypoglycemia ORPHA:228308
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Congenital diaphragmatic hernia, Hydrocepha... OMIM:616546
1Q44 Microdeletion Syndrome
Hydrocephalus, Ventriculomegaly, Micrognathia ORPHA:238769
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Hydrocephalus, Flexion contracture, Lateral ventricle dilatation, Pes valgus, D... OMIM:613154
African Trypanosomiasis
Tremor, Choreoathetosis, Abnormal EKG, Hepatosplenomegaly, Gait disturbance, Abnormality of the m... ORPHA:3385
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Flexion contracture OMIM:615249
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Short fourth metatarsal, Micrognathia, Aplasia of the right hemidiap... OMIM:619841
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Basal Cell Nevus Syndrome 1
Down-sloping shoulders, Spina bifida, Hydrocephalus, Plantar pits, Irregular ossification of hand... OMIM:109400
Cole-Carpenter Syndrome
Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Abnormal dental ename... ORPHA:2050
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Ataxia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteoporosis, Atten... ORPHA:77293
Baller-Gerold Syndrome
Micrognathia, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of the ulna, Radial deviation... OMIM:218600
Alobar Holoprosencephaly
Inability to walk, Hydrocephalus, Flexion contracture, Hip dislocation, Dysphagia, Abnormal heart... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Inability to walk, Hydrocephalus, Flexion contracture, Hip dislocation, Dysphagia, Abnormal heart... ORPHA:93926
Lobar Holoprosencephaly
Inability to walk, Hydrocephalus, Flexion contracture, Hip dislocation, Dysphagia, Abnormal heart... ORPHA:93924
Semilobar Holoprosencephaly
Inability to walk, Hydrocephalus, Flexion contracture, Hip dislocation, Dysphagia, Abnormal heart... ORPHA:220386
Beare-Stevenson Cutis Gyrata Syndrome
Overlapping toe, Craniosynostosis, Hydrocephalus, Hypertension, Palmoplantar cutis laxa, Ventricu... OMIM:123790
Crouzon Syndrome
Coronal craniosynostosis, Lambdoidal craniosynostosis, Hydrocephalus, Sagittal craniosynostosis OMIM:123500
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Hypertensive crisis, Diabetes mellitus, Myocarditis, Leukocytosis, Hypertension... ORPHA:544482
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Hemangioblastoma
Hydrocephalus ORPHA:252054
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... OMIM:208500
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Oxoglutaric Aciduria
Hydrocephalus, Ataxia ORPHA:31
Alport Syndrome 1, X-Linked
Hypertension, Thrombocytopenia OMIM:301050
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Inguinal hernia, Hyperactivity, Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia... ORPHA:457284
Kabuki Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Small hand, Hip dislocation, Obes... ORPHA:2322
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Leukocytosis, Hydrocephalus, Flexion contracture, Genu valgum, Abdominal obesity, Hypoplasia of t... OMIM:619321
Marden-Walker Syndrome
Arachnodactyly, Talipes, Camptodactyly of finger, Micrognathia, Metatarsus adductus, Hydrocephalu... ORPHA:2461
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Spl... OMIM:219800
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:615219
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Hydrocephalus, Arrhythmia, Hypoketotic hypoglycemia ORPHA:157
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Absence of the sacrum, Congenital hip dislocation, Asplenia, Aqueductal stenosis, My... OMIM:306955
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to ... OMIM:163950
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Narrow greater sciatic notch, Short palm, Cryptorchidism, Short ... OMIM:312870
Neurooculorenal Syndrome
Short hallux, Micrognathia, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Recurrent hypogly... OMIM:620305
Acute Liver Failure
Gastrointestinal hemorrhage, Shock, Ataxia, Hypoglycemia, Intracranial hemorrhage, Agitation, Hyp... ORPHA:90062
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Omphalocele, Talipes, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Hy... ORPHA:2166
Orofaciodigital Syndrome Type 4
Decreased testicular size, Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Mi... ORPHA:2753
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Ventriculomegaly, Micrognathia, Meningoencephalocele, Cryptorchidism, Hy... OMIM:236670
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Missing ribs OMIM:613686
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Junctional ectopic tachycardia, Hydrocephalus, Colpocephaly, Cho... OMIM:309801
Orofaciodigital Syndrome I
Microretrognathia, Syndactyly, Myelomeningocele, Hydrocephalus, Short 2nd toe, Hypertension, Poly... OMIM:311200
Limb Body Wall Complex
Encephalocele, Ventral hernia, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involv... ORPHA:2369
Cryptococcosis
Hydrocephalus, Lymphoid leukemia, Prostatitis, Osteolysis ORPHA:1546
Lhermitte-Duclos Disease
Hydrocephalus, Hand polydactyly, Ataxia ORPHA:65285
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Lower limb dysmetria, Micrognathia, Abnormal tibia morphology, Bone cyst, Hydrocephalus, Genu val... ORPHA:363700
Townes-Brocks Syndrome 1
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, 2-4 finger syndactyly, Cryptorchidism, ... OMIM:107480
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Hypoplas... ORPHA:3144
Distal 22Q11.2 Microduplication Syndrome
Toe syndactyly, Tricuspid regurgitation, Camptodactyly of finger, Tapered finger, Micrognathia, C... ORPHA:261337
Caroli Syndrome
Portal hypertension, Hypersplenism, Hematemesis, Leukocytosis, Melena, Leukopenia, Thrombocytopenia ORPHA:480520
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Meningioma
Hypogonadotropic hypogonadism, Ataxia, Cerebral hemorrhage, Hydrocephalus, Obesity, Impotence, Sy... ORPHA:2495
Stromme Syndrome
Accessory spleen, Hydrocephalus, Preaxial polydactyly, Micrognathia OMIM:243605
Leptospirosis
Pericarditis, First degree atrioventricular block, Anorexia, Retinal hemorrhage, Subconjunctival ... ORPHA:509
Hardikar Syndrome
Portal hypertension, Hypersplenism, Splenomegaly, Hematemesis, Osteoporosis, Hepatosplenomegaly, ... OMIM:301068
Meckel Syndrome, Type 6
Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot p... OMIM:612284
Fetal Akinesia Deformation Sequence 1
Hip contracture, Ulnar deviation of the hand, Small for gestational age, Rocker bottom foot, Camp... OMIM:208150
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion contracture, A... OMIM:268300
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Tangier Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:31150
Chromosome 1P36 Deletion Syndrome, Distal
Clinodactyly of the 5th finger, Self-mutilation, Oppositional defiant disorder, Cryptorchidism, D... OMIM:607872
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Inguinal hernia, Sagittal craniosynostosis, ... OMIM:218330
Systemic Lupus Erythematosus
Hemolytic anemia, Raynaud phenomenon, Leukopenia, Hypertension, Thrombocytopenia ORPHA:536
Arachnoiditis
Hydrocephalus ORPHA:137817
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly OMIM:614195
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Hallux valgus, Prolonged QT interval, Streak ovary, Unilateral cryptorchidism, ... ORPHA:1772
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Postaxial polydactyly, Craniosynostosis, Postaxial hand polydact... OMIM:605627
Digeorge Syndrome
Inguinal hernia, Femoral hernia, Micrognathia, Thrombocytopenia, Splenomegaly, Obesity, Hydrocele... OMIM:188400
Primary Sjögren Syndrome
Normocytic anemia, Raynaud phenomenon, Vasculitis, Leukopenia, Normochromic anemia, Arteritis, De... ORPHA:289390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Adducted thumb OMIM:614643
Yellow Fever
Shock, Neutrophilia, Supraventricular arrhythmia, Hematemesis, Leukocytosis, Capillary leak, Redu... ORPHA:99829
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Hypoplasia of the radius, Ectrodactyly, Oligodactyly ORPHA:3016
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Craniosynostosis, Micrognathia ORPHA:1064
Kabuki Syndrome 1
Hemolytic anemia, Congenital hip dislocation, Micrognathia, Autoimmune thrombocytopenia, Cryptorc... OMIM:147920
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Ataxia, Cachexia ORPHA:220295
Peters-Plus Syndrome
Proximal placement of thumb, Micrognathia, Short metatarsal, Square pelvis bone, Short palm, Clin... OMIM:261540
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly, Postaxial polydactyly OMIM:219730
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Syndactyly, Tricuspid regurgitation, Small for gestational a... OMIM:612289
Basal Cell Nevus Syndrome 2
Hydrocephalus, Plantar pits OMIM:620343
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Pes planus, Ventriculomegaly, Arachnodactyly, Large for gestational ... ORPHA:457359
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Micrognathia, Hydrocephalus, Foot polydactyly, Short palm ORPHA:268249
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Absent Achilles reflex, Neural tube defect, Dif... ORPHA:268810
Liver Disease, Severe Congenital
Inguinal hernia, Micrognathia, Splenomegaly, Hydrocele testis, Leukopenia, Anemia, Abnormal left ... OMIM:619991
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Portal hypertension, Micrognathia, Hypersplenism, Splenomegaly, Hepa... ORPHA:731
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Hydrocephalus, Congenital hip dislocation, Umbilical hernia OMIM:104350
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Hernia of the abdominal wall ORPHA:2184
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Hydrocephalus, Ventriculomegaly, Congenital contracture OMIM:613150
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Pes planus, Arachnodactyly, Large for gestational age, Gait ataxia, ... OMIM:617011
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Micr... ORPHA:2556
Costello Syndrome
Hyperextensibility of the finger joints, Hypoglycemia, Micrognathia, Achilles tendon contracture,... OMIM:218040
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Micrognathia OMIM:243440
Holoprosencephaly 14
Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst... OMIM:619895
Sacral Defect With Anterior Meningocele
Absence of the sacrum, Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus t... OMIM:600145
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Noncommunicating... ORPHA:805
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Hydrocephalus, Ventriculomegaly OMIM:616538
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Hypertension OMIM:162200
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunct... ORPHA:90797
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Syndactyly, Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardi... OMIM:619534
Peters Plus Syndrome
Inguinal hernia, Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Cryptorchidism, Short toe,... ORPHA:709
Loeys-Dietz Syndrome 2
Syndactyly, Pes planus, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, M... OMIM:610168
Plasminogen Deficiency, Type I
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:217090
Fraser Syndrome 3
Short toe, Hydrocephalus, Cutaneous syndactyly, Micrognathia OMIM:617667
Capillary Malformation-Arteriovenous Malformation
Epistaxis, High-output congestive heart failure, Hydrocephalus, Congestive heart failure, Telangi... ORPHA:137667
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Holoprosencephaly 7
Omphalocele, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly,... OMIM:610828
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
11 pairs of ribs, Occipital encephalocele, Communicating hydrocephalus, Ventriculomegaly, Hydroce... OMIM:615287
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Limb dystonia, Hemolytic anemia, Cerebral hemorrhage, Hydrocephalus, Retinal hemorrhage, Ischemic... OMIM:175780
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Micrognathia, Asplenia, Hydrocephalus, Hypoplastic pelvis, Tetra... OMIM:273395
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly OMIM:313850
Coffin-Siris Syndrome 12
Micrognathia, Hip subluxation, Cryptorchidism, Short thumb, Slender finger, Noncommunicating hydr... OMIM:619325
Full Nf2-Related Schwannomatosis
Myelopathy, Hydrocephalus, Unsteady gait, Dysphagia ORPHA:637
Fraser Syndrome 1
Encephalocele, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the sternum, Cryptorchidism... OMIM:219000
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage, Hydrocephalus, Hypogonadotropic hypogonadism ORPHA:91350
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Split Cord Malformation
Pes planus, Lower limb asymmetry, Abnormal foot morphology, Talipes cavus equinovarus, Myelomenin... ORPHA:573278
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Omphalocele, Congenital hip dislocation, Cryptorchidism,... OMIM:258040
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia, Weight loss ORPHA:79078
Thakker-Donnai Syndrome
Communicating hydrocephalus, Congenital diaphragmatic hernia ORPHA:1780
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Hydrocephalus ORPHA:2736
Loeys-Dietz Syndrome 1
Arachnodactyly, Craniosynostosis, Micrognathia, Postaxial hand polydactyly, Hydrocephalus, Talipe... OMIM:609192
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Holoprosencephaly 9
Cryptorchidism, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephaly OMIM:610829
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Hydrocephalus, Shagreen patch ORPHA:538
Exstrophy-Epispadias Complex
Omphalocele, Inguinal hernia, Spina bifida, Cryptorchidism, Hydrocephalus, Cystocele, Male sexual... ORPHA:322
Friedreich Ataxia 2
Abnormal EKG, Ataxia, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Diabetic ... OMIM:601992
Knobloch Syndrome
Occipital encephalocele, Hydrocephalus ORPHA:1571
Cystic Fibrosis
Male infertility, Clubbing of fingers, Failure to thrive, Hepatosplenomegaly OMIM:219700
Hypoplasminogenemia
Cervicitis, Hydrocephalus, Dandy-Walker malformation ORPHA:722
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hydrocephalus, Ventriculomegaly, Micrognathia OMIM:253280
Craniofacial Microsomia 1
Occipital encephalocele, Micrognathia, Partial duplication of thumb phalanx, Hydrocephalus, Genu ... OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Brain - MPATH pathological entity term hydrocephalus Gnl1em1(IMPC)Tcp HOM Early adult
Sternum - MPATH pathological process term fibro-osseous lesion Gnl1em1(IMPC)Tcp HOM Early adult
Brain - MPATH pathological process term developmental dysplasia Gnl1em1(IMPC)Tcp HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gnl1.

No publications found that use IMPC mice or data for Gnl1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Gnl1em1(IMPC)Tcp Exon Deletion Mice
Gnl1tm79297(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter