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Gene: Sox14 MGI:98362

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Gene Summary

Name:
SRY (sex determining region Y)-box 14
Synonyms:
N/A

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
abnormal thymus morphology Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
small kidney Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
increased airway resistance Sox14em1(IMPC)Ccpcz HOM Early adult 1.75×10-07
preweaning lethality, incomplete penetrance Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
trunk curl Sox14em1(IMPC)Ccpcz HOM Early adult 6.72×10-06
abnormal snout morphology Sox14em1(IMPC)Ccpcz HOM Early adult 5.13×10-05
small heart Sox14em1(IMPC)Ccpcz HET Early adult 0.00
decreased locomotor activity Sox14em1(IMPC)Ccpcz HOM Early adult 1.15×10-08
hyperactivity Sox14em1(IMPC)Ccpcz HOM Early adult 6.22×10-21
microphthalmia Sox14em1(IMPC)Ccpcz HET Early adult 0.00
enlarged thymus Sox14em1(IMPC)Ccpcz HET Early adult 0.00
abnormal behavior Sox14em1(IMPC)Ccpcz HOM Early adult 2.46×10-08
abnormal skin morphology Sox14em1(IMPC)Ccpcz HOM Early adult 3.64×10-05
abnormal thymus morphology Sox14em1(IMPC)Ccpcz HET Early adult 0.00
abnormal seminal vesicle morphology Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
limb grasping Sox14em1(IMPC)Ccpcz HOM Early adult 1.36×10-06
abnormal eye morphology Sox14em1(IMPC)Ccpcz HET Early adult 0.00
abnormal heart morphology Sox14em1(IMPC)Ccpcz HET Early adult 0.00
abnormal spleen morphology Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
increased lung tissue damping Sox14em1(IMPC)Ccpcz HET Early adult 2.85×10-05
enlarged thymus Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
decreased respiratory quotient Sox14em1(IMPC)Ccpcz HOM Early adult 4.42×10-05
male infertility Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
increased freezing behavior Sox14em1(IMPC)Ccpcz HOM Early adult 5.00×10-08
decreased startle reflex Sox14em1(IMPC)Ccpcz HOM   Early adult 2.27×10-06
microphthalmia Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal lymph node morphology Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Sox14em1(IMPC)Ccpcz HET Early adult 0.00
abnormal spleen morphology Sox14em1(IMPC)Ccpcz HET Early adult 0.00
increased grip strength Sox14em1(IMPC)Ccpcz HOM   Early adult 2.18×10-06
small kidney Sox14em1(IMPC)Ccpcz HET Early adult 0.00
decreased body weight Sox14em1(IMPC)Ccpcz HOM Early adult 5.11×10-12
decreased thigmotaxis Sox14em1(IMPC)Ccpcz HOM Early adult 5.07×10-08
abnormal vocalization Sox14em1(IMPC)Ccpcz HOM Early adult 2.06×10-06
abnormal gait Sox14em1(IMPC)Ccpcz HOM Early adult 1.36×10-06
increased prepulse inhibition Sox14em1(IMPC)Ccpcz HET   Early adult 3.99×10-05
abnormal eye morphology Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
increased aggression Sox14em1(IMPC)Ccpcz HOM Early adult 3.38×10-06
abnormal auditory brainstem response Sox14em1(IMPC)Ccpcz HET   Early adult 0.0423
small seminal vesicle Sox14em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged lymph nodes Sox14em1(IMPC)Ccpcz HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

54 Images

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X-ray

XRay Images Skull Lateral Orientation

27 Images

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X-ray

XRay Images Whole Body Lateral Orientation

27 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

27 Images

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X-ray

XRay Images Forepaw

27 Images

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X-ray

XRay Images Whole Body Dorso Ventral

54 Images

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Human diseases caused by Sox14 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 Sox14 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dystonia 31
Generalized dystonia, Writer's cramp, Leg dystonia, Depression, Arm dystonia, Difficulty walking,... OMIM:619565
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Ethanolaminosis
Cardiomegaly OMIM:227150
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, Plasmacytosis, Cough ORPHA:60026
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy, Anorexia, Weight loss ORPHA:52416
Squamous Cell Carcinoma Of The Esophagus
Cough, Lymphadenopathy ORPHA:99977
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Microphthalmia, Thrombocytopenia, ... ORPHA:858
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Respiratory insufficiency, Hepatomegaly ORPHA:2432
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Cough, Inability to walk, Opisthotonus, Weight loss, Tip-toe gait, Gait dis... ORPHA:216866
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Adenocarcinoma Of The Esophagus
Cough, Obesity, Lymphadenopathy ORPHA:99976
Mmep Syndrome
Microphthalmia, Ventricular septal defect, Cryptorchidism ORPHA:3434
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia, Weight loss, Adrenoco... ORPHA:100083
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Uraciluria, Microphthalmia, Lethargy, Failure to thrive OMIM:274270
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Micro... OMIM:613730
Immunodeficiency 104
Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive seco... OMIM:608971
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Dyspnea, Abnormal respiratory system physiology, Dysphagia, L... ORPHA:50251
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Depression, Weight loss, Irritability, Gait ataxia, Brad... ORPHA:248111
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Classic Galactosemia
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Postural tremor, Ataxia, Decreas... ORPHA:79239
Huntington Disease-Like 1
Restlessness, Dysmetria, Gait ataxia, Depression, Weight loss, Bradykinesia, Gait disturbance, Ab... ORPHA:157941
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility 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
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Microphthalmia OMIM:615524
Adams-Oliver Syndrome 4
Atrial septal defect, Microphthalmia, Ventricular septal defect OMIM:615297
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Torsion dystonia, D... OMIM:128100
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Weight loss ORPHA:86893
Xeroderma Pigmentosum, Complementation Group G
Tremor, Microphthalmia, Small for gestational age, Ataxia OMIM:278780
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Lymphopenia, Autoimmune thrombocytopenia, Splenomeg... OMIM:617514
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Splenomegaly, Sensorineural hearing im... ORPHA:290
Classic Hodgkin Lymphoma
Hepatomegaly, Ataxia, Anorexia, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Weight ... ORPHA:391
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ... ORPHA:66624
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Sensorineural hearing impairme... OMIM:618652
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility ORPHA:98797
Perry Syndrome
Hypoventilation, Central hypoventilation, Akinesia, Tremor, Respiratory insufficiency, Depression... OMIM:168605
Ravine Syndrome
Apnea, Abnormal auditory evoked potentials ORPHA:99852
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Optic atrophy ORPHA:1574
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency 27A
Abnormal bronchus physiology, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly... OMIM:209950
Developmental And Epileptic Encephalopathy 1
Dystonia, Dyspnea, Choreoathetosis, Dysphagia, Microphthalmia, Micropenis OMIM:308350
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 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... OMIM:301101
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system physiology, Nephropathy, Abnormal... ORPHA:85447
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Thrombocytopenia, Tachypnea, Methylmalonic aciduria, Normochromic anemia, Neutrop... OMIM:614857
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Inability to walk, Lymphad... OMIM:257200
Combined Oxidative Phosphorylation Deficiency 8
EEG abnormality, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Optic disc pallor, Posteriorly rotated ears, Pulmonary arterial hyperten... OMIM:300887
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
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
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Throm... OMIM:615085
Congenital Myopathy 8
Reduced vital capacity, Respiratory insufficiency, Cardiomegaly OMIM:618654
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia OMIM:614082
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Myoclonic-Astatic Epilepsy
Hyperactivity, Ataxia, Tremor, Unsteady gait, Wide nasal bridge, Abnormal emotion, Attention defi... ORPHA:1942
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome OMIM:269920
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal posturing, Dysphagia, Dystonia OMIM:304700
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Rhabdoid Tumor
Thrombocytopenia, Respiratory insufficiency, Lymphadenopathy, Hematuria, Irritability, Weight los... ORPHA:69077
Spinocerebellar Ataxia Type 8
Dystonia, Ataxia, Urinary incontinence, Unsteady gait, Limb ataxia, Depression, Gait ataxia, Brad... ORPHA:98760
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... OMIM:252920
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
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Low-set ears OMIM:616570
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Macrotia, Cardiomegaly OMIM:300886
Pseudo-Torch Syndrome 3
Apnea, Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Respiratory insufficiency, Acute k... OMIM:618886
Anaplastic Thyroid Carcinoma
Respiratory distress, Cough, Dyspnea, Upper airway obstruction, Weight loss, Lymphadenopathy, Str... ORPHA:142
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Microphthalmia, Hepatic steatosis, Pancr... OMIM:618805
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Pierpont Syndrome
Cryptorchidism, Decreased body weight, Microphthalmia, Micropenis, Failure to thrive, Short nose OMIM:602342
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Decreased proportion of class-switche... OMIM:619126
Xk Aprosencephaly Syndrome
Atrial septal defect, Microphthalmia, Ventricular septal defect ORPHA:3469
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Nanophthalmos
Microphthalmia ORPHA:35612
Meckel Syndrome, Type 8
Anophthalmia, Pericardial effusion, Low-set ears, Polycystic kidney dysplasia, Microphthalmia, En... OMIM:613885
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditi... ORPHA:615
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Posteriorly rotated ears, Unilateral renal agenesis, Cryptorchidism, R... OMIM:618494
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Neonatal respiratory distress, Ketonuria, Renal hypoplasia, Microphthalmia, Hypertr... OMIM:619053
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Hyperactivity, Hypospadias, Aggressive behavior, Tremor, Cryptorchidism, Gait ataxia, Abdominal o... OMIM:300354
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Nodular goiter, Chronic lu... ORPHA:319487
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Leukemia, Ventricular septal defect, Large earlobe OMIM:602501
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Nodular goiter, Chronic lu... ORPHA:97290
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinop... OMIM:602450
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... OMIM:603903
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Urinary incontinence, Dysphagia, Titubation, Gait ataxia, Bradykinesia, Gait dist... ORPHA:225147
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Iron defic... ORPHA:99931
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia, Hearing impairment OMIM:120433
Warburg Micro Syndrome 1
External genital hypoplasia, Cryptorchidism, Wide nasal bridge, Microphthalmia, Failure to thrive OMIM:600118
2Q24 Microdeletion Syndrome
Central apnea, Microphthalmia, Failure to thrive, Small for gestational age ORPHA:1617
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Microphthalmia, Micropen... ORPHA:335
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Hypogonadotropic hypogonadism, Dysmetria, Microphthalmia, Intention tremor ORPHA:48431
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Weig... ORPHA:100024
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone stimulati... OMIM:609053
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
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kid... ORPHA:2470
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh... ORPHA:545
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Ataxia, Pneumonia, Pure red cell aplasia, Au... OMIM:613179
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Attrv122I Amyloidosis
Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val... ORPHA:85451
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Adrenocorticotropic hormo... OMIM:609981
Ectodermal Dysplasia-Syndactyly Syndrome 2
Macrotia, Cardiomegaly OMIM:613576
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Cofs Syndrome
Microphthalmia, Hypogonadism, Wide nasal bridge ORPHA:1466
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Absent brainstem auditory responses, Apnea, ... ORPHA:79330
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Cardiomyopa... ORPHA:1215
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Thrombocytope... ORPHA:507
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosis, Hepatocellular carcinoma, Pl... OMIM:235200
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Respiratory... OMIM:600649
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Optic atrophy, Optic disc pallor OMIM:616171
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Hypogonadism ORPHA:2528
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Pierpont Syndrome
Posteriorly rotated ears, Uplifted earlobe, Cryptorchidism, Microphthalmia, Macrotia, Hearing imp... ORPHA:487825
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Apnea, Oculogyric crisis, Tongue thrusting, Limb tremo... OMIM:608643
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Apnea, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ca... OMIM:608800
Trisomy 13
Anophthalmia, Ventricular septal defect, Displacement of the urethral meatus, Cryptorchidism, Sen... ORPHA:3378
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Microvesicular hepatic s... OMIM:212140
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, Thrombocytopeni... OMIM:603467
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Caspase 8 Deficiency
Pneumonia, Decreased CD4:CD8 ratio, Splenomegaly, Asthma, Lymphadenopathy, Failure to thrive OMIM:607271
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Fatiga... ORPHA:42
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Facial palsy, Cardiomyopathy OMIM:613155
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Biliary tract abnormality, Respiratory insufficiency, Membrano... ORPHA:3191
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... OMIM:619220
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Dysphagia, Goiter ORPHA:97285
Combined Oxidative Phosphorylation Deficiency 41
Hearing impairment, Anemia, Cardiomegaly OMIM:618838
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... OMIM:600501
3Q29 Microdeletion Syndrome
Hypospadias, Aggressive behavior, Horseshoe kidney, Depression, Gait disturbance, Attention defic... ORPHA:65286
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Microphthalmia ORPHA:141333
Moebius Syndrome
Respiratory distress, Hypogonadotropic hypogonadism, Dysdiadochokinesis, Gait disturbance, Dyspha... OMIM:157900
Fanconi Anemia, Complementation Group J
Microphthalmia, Bone marrow hypocellularity OMIM:609054
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... OMIM:615513
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Respiratory insu... ORPHA:100924
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Refsum Disease
Renal insufficiency, Splenomegaly, Sensorineural hearing impairment, Respiratory insufficiency, C... ORPHA:773
Cat-Eye Syndrome
Microphthalmia, Hydronephrosis, Hearing impairment ORPHA:195
Ciliary Dyskinesia, Primary, 14
Male infertility, Neonatal respiratory distress, Rhinorrhea, Wheezing, Recurrent pneumonia, Bronc... OMIM:613807
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Sim... OMIM:619318
Fixed Subaortic Stenosis
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Abnormal hear... ORPHA:3092
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, B ... ORPHA:397596
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... ORPHA:3000
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Renal hypoplasia, Protruding ear, ... ORPHA:85284
Microphthalmia, Syndromic 9
Anophthalmia, Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Hypoplastic le... OMIM:601186
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Noc... ORPHA:85450
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Alpha-N-Acetylgalactosaminidase Deficiency
Recurrent pneumonia, Oligosacchariduria, Hearing impairment, Cardiomegaly ORPHA:3137
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomegaly, Pericardial effus... ORPHA:555874
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis ORPHA:66661
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia OMIM:612716
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Sinusitis, Absence of lymph node germinal center, Recurrent pneumonia, T lymphocytop... ORPHA:277
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Tularemia
Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenop... ORPHA:3392
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, EEG abnormality, Respiratory failure, Perimembranous ventricu... OMIM:618804
Microphthalmia, Isolated 5
Microphthalmia, Optic disc pallor, Optic disc drusen OMIM:611040
Scrub Typhus
Renal insufficiency, Tremor, Splenomegaly, Dyspnea, Lymphadenopathy, Restrictive ventilatory defe... ORPHA:83317
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Optic atrophy, Hypertrophic cardiomyopathy, Pleural effusion OMIM:614702
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Restlessness, Hyperactivity, Ataxia, Aggressive behavior, Cryptorchidism, Bilateral microphthalmo... ORPHA:369891
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Epistaxis, Anorexia, Productive cough, Thrombocytopenia, Leukocytosis... ORPHA:520
Joubert Syndrome 37
Decreased testicular size, Hepatomegaly, Cryptorchidism, Obesity, Wide nasal bridge, Microphthalm... OMIM:619185
Braddock-Carey Syndrome 2
Microphthalmia, Atresia of the external auditory canal, Thrombocytopenia, Hearing impairment OMIM:619981
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Lymphopenia, Decreased proportion of naive ... ORPHA:276
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop... OMIM:619164
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Posteriorly rotated ears, Left atrial enlargement, Cardiomegaly, Cardiom... OMIM:300280
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab... ORPHA:54251
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Hearing impairment OMIM:610023
Legionnaires Disease
Renal insufficiency, Proteinuria, Ataxia, Anorexia, Splenomegaly, Jaundice, Hepatitis, Respirator... ORPHA:549
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade... OMIM:240500
Rere-Related Neurodevelopmental Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Hypospadias, Cryptorchidism, Optic ... ORPHA:494344
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:1528
Tay-Sachs Disease
Exaggerated startle response, Precocious puberty, Tremor, Inability to walk, Dysphagia, Depressio... ORPHA:845
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Pediatric-Onset Graves Disease
Hepatomegaly, Hyperactivity, Tremor, Splenomegaly, Neonatal asphyxia, Jaundice, Neutropenia in pr... ORPHA:525731
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Dysmetria, Athetosis, ... OMIM:617302
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinuria, Tachypnea, Hep... OMIM:201475
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Anorexia, Portal hypertension... ORPHA:824
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Microphthalmia, Sensorineural hearing impairment, Optic atrophy ORPHA:1473
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Ventricular septal defect, Low-set ears ORPHA:93267
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great a... OMIM:306955
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Neonatal asphyxia, Cryptorchidism, Microtia, Multiple bladder diverticula, Atrial se... ORPHA:2728
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Hemoly... OMIM:619644
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy, Incr... OMIM:618982
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology ORPHA:33111
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Lymphadenopathy, Respiratory insufficiency, Weight loss ORPHA:26790
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia, Respiratory insufficiency OMIM:613153
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Recurrent sinusitis,... OMIM:613101
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Cryptorchidism, Microp... ORPHA:77298
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Weight loss... ORPHA:3226
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Decreased CD4:CD8 ... OMIM:618495
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Cachexia, Testicular neop... ORPHA:83469
Aggressive Systemic Mastocytosis
Pancytopenia, Anorexia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepat... ORPHA:98850
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... ORPHA:8
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Microphthalmia, Syndromic 13
Anteverted ears, Microphthalmia OMIM:300915
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Fanconi Anemia, Complementation Group E
Pancytopenia, Ectopic kidney, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Horseshoe kidn... OMIM:600901
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Respiratory distress, Cardiomegaly, Pericardial effusion, ... OMIM:115197
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
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss ORPHA:42642
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Respiratory distress, Abnormal drinking behavior, Choreoathetosis, Compulsive... ORPHA:209905
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Small scrotum, Long nose, Cryptorchidism, Gait ataxia, Microphallus, Low frustrati... OMIM:300486
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presen... OMIM:607594
Meckel Syndrome, Type 4
Ventricular septal defect, Renal cyst, Bile duct proliferation, Atrial septal defect, Microphthalmia OMIM:611134
Coronary Arterial Fistula
Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr... ORPHA:2041
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... ORPHA:52368
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Supernumerary nipple, Aggressive behavior, Wide nasal bridge, Gait disturbance, Attention deficit... OMIM:620098
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Intermittent hyperventilation, Ataxia, Aggressive behavior, Precocio... ORPHA:163681
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Renal insufficiency, Proteinuria, Ataxia, Splenomegaly, Dyspnea, Lymphadenopathy, H... ORPHA:36412
Mulibrey Nanism
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly OMIM:253250
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H... OMIM:602782
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy ORPHA:100025
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Apnea, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation OMIM:618056
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noni... ORPHA:97289
Frontonasal Dysplasia 1
Conductive hearing impairment, Microphthalmia, Tetralogy of Fallot, Low-set ears OMIM:136760
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Cough, Dyspnea, Stridor, Choking episodes, Impaired orop... ORPHA:2004
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Abnormal lymph... OMIM:612840
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Fryns Microphthalmia Syndrome
Microphthalmia, Macrotia, Anophthalmia OMIM:600776
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Mediastin... ORPHA:91359
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Pneumonia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8... ORPHA:911
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cupped ear, Lens coloboma, Renal hypoplasia, Pulmonic stenosis, Microphthalmia, Patent foramen ovale OMIM:618914
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Ventricular septal defect, Abnormal antihelix morphology, Low-set... ORPHA:85194
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Pontine Tegmental Cap Dysplasia
Ataxia, Head titubation, Dysmetria, Dysphagia, Aspiration, Failure to thrive OMIM:614688
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Fanconi Anemia, Complementation Group A
Pancytopenia, Ectopic kidney, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Horseshoe kidn... OMIM:227650
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Cryptorchidism, Sensorineural hearing impairment, Overfolded helix, Microp... OMIM:243310
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Ataxia OMIM:615771
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Irritability, Failure to... OMIM:617864
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Cryptorchidism, Recurrent pneumonia, Microphthalmia, Failure to thrive OMIM:214150
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss, Irritability, Polyphagia, Goiter OMIM:275000
Developmental And Epileptic Encephalopathy 38
Irritability, Ataxia, Aspiration, Dystonia OMIM:617020
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Portal hypertension, Congenital hepatic fibrosis, Leukopenia... ORPHA:974
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, EEG with burst suppression, Sensorineural hearing impairment, Cardiom... OMIM:617713
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Ataxia, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Irritability, Le... OMIM:267700
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology, ... ORPHA:1332
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Failure to thrive, Ataxia OMIM:616881
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Hepatic fibrosis, Cough, Atrial septal defect, Patent foramen ovale, Ac... OMIM:620005
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:618261
Fanconi Anemia, Complementation Group S
Ataxia, Ovarian neoplasm, Ovarian carcinoma, Microphthalmia, Failure to thrive, Anemia OMIM:617883
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,... OMIM:231005
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Ataxia... OMIM:214500
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Cervical lymphadenopathy, Leukocytosis, Oliguria, Weight loss... ORPHA:514
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, He... OMIM:603553
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Posteriorly rotated ears, Hypospadias, Cardiomegaly, Micropenis, Large... OMIM:616897
Mosaic Trisomy 9
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, As... ORPHA:99776
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Aggressive beha... ORPHA:2131
Aregenerative Anemia
Pancytopenia, Abnormal proportion of CD8-positive T cells, Dyspnea, Erythroid hypoplasia, Reticul... ORPHA:101096
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Microphthalmia ORPHA:363741
Acute Interstitial Pneumonia
Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Lymphadenopathy, Hyp... ORPHA:79126
Citrullinemia Type Ii
Restlessness, Hyperactivity, Hepatomegaly, Aggressive behavior, Tremor, Abnormal eating behavior,... ORPHA:247585
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Microphthalmia, Isosexual precocious puberty, Waddling gait ORPHA:2788
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:164180
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Abs... OMIM:620282
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia ORPHA:309246
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ... OMIM:618987
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Overfolded helix, Mitral valve prolapse... ORPHA:324410
Cat Eye Syndrome
Ventricular septal defect, Biliary atresia, Vesicoureteral reflux, Horseshoe kidney, Hypoplastic ... OMIM:115470
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Aniridia, Microphthalmia, Micropenis, Failure to thrive OMIM:602361
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis, Microtia, Hydroureter ORPHA:2547
Stevenson-Carey Syndrome
Posteriorly rotated ears, Central hypoventilation, Low-set ears, Atrial septal defect, Microphtha... OMIM:611961
Roifman Syndrome
Hypogonadotropic hypogonadism, Eosinophilia, Recurrent pneumonia, Lymphadenopathy, Hepatosplenome... ORPHA:353298
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg... ORPHA:308552
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Refsum Disease, Classic
Cardiomyopathy, Sensorineural hearing impairment, Abnormal renal physiology, Cardiomegaly OMIM:266500
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Timothy Syndrome
Ventricular septal defect, Pneumonia, Cardiomegaly, Pulmonary arterial hypertension, Tetralogy of... OMIM:601005
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Kapur-Toriello Syndrome
Hypoplasia of penis, Posteriorly rotated ears, Ventricular septal defect, Atresia of the external... ORPHA:2328
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Neonatal respiratory distress, Ureteral duplication, Apnea, Posteriorly rotated ear... OMIM:608836
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Glycogen Storage Disease Ii
Hepatomegaly, Urinary incontinence, Cardiomegaly, Respiratory insufficiency due to muscle weaknes... OMIM:232300
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia ORPHA:261272
Joubert Syndrome 22
Microphthalmia, Renal hypoplasia OMIM:615665
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Proteinuria, Epistaxis, Asplenia, Cervical lymphadenopathy, Lymph... OMIM:614034
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Complete atrioventricular cana... OMIM:264480
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, Lymphaden... OMIM:150550
Hartsfield Syndrome
Low-set, posteriorly rotated ears, Microphthalmia, Respiratory insufficiency ORPHA:2117
Warburg Micro Syndrome 3
Small scrotum, Inability to walk, Hypoplastic labia minora, Microphthalmia, Micropenis, Decreased... OMIM:614222
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Optic disc pallor OMIM:251270
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Wide nasal bridge, Attention deficit hyperactivity disorder, Compulsive behaviors... ORPHA:404440
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Bronchiectasis, Absence of lymph node g... OMIM:608184
Acute Bilirubin Encephalopathy
Central apnea, Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impai... ORPHA:529799
Chronic Bilirubin Encephalopathy
Central apnea, Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impai... ORPHA:529808
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Dyspnea, Asthma, Wheezing, Bronchiectasis, L... OMIM:620233
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Elevated circulating growth hormon... ORPHA:97287
Griscelli Syndrome
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopa... ORPHA:381
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:603909
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Neonatal respiratory distress, Thymus hyperplasia, EEG with burst suppression, Hypsarrhythmia, Ch... OMIM:619036
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Warburg Micro Syndrome 4
Small scrotum, Inability to walk, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicula... OMIM:615663
Acquired Hypertrichosis Lanuginosa
Weight loss, Lymphadenopathy, Ovarian neoplasm ORPHA:2221
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Rett Syndrome, Congenital Variant
Dystonia, Tongue thrusting, Athetosis, Irritability, Bruxism, Aspiration, Abnormal repetitive man... OMIM:613454
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Hepatic steatosis OMIM:255120
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hepatomegaly, Anophthalmia, Renal insufficiency, Proteinuria... ORPHA:90321
Marden-Walker Syndrome
Hypospadias, Dextrocardia, Cryptorchidism, Renal hypoplasia, Low-set ears, Microphthalmia, Microp... OMIM:248700
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Thrombocytopenia, Reticu... OMIM:227645
Hsd10 Disease, Infantile Type
Cardiomegaly, Optic atrophy, Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine... ORPHA:391428
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Omenn Syndrome
Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syn... ORPHA:39041
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Paten... ORPHA:439
Complete Atrioventricular Septal Defect
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal de... ORPHA:1329
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Depression OMIM:620114
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, ... OMIM:615122
Vici Syndrome
Lymphopenia, Neutropenia, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, Macular hypo... OMIM:242840
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cryptorchidism, Hypoplasia of the iris, Subvalvular aortic stenosis, A... OMIM:613001
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Macrotia OMIM:619694
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Microphthalmia, Failure to thrive, Dysphagia OMIM:612379
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia OMIM:301060
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia, Hypochromic microcytic anemia, Respira... ORPHA:3240
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hyperactivity, Hypospadias, Small for gestational age, Aggressive behavior, Crypto... OMIM:619148
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly OMIM:268800
Lissencephaly 8
Microphthalmia, Optic atrophy OMIM:617255
Baraitser-Winter Syndrome 2
Microphthalmia, Abnormal pinna morphology, Hearing impairment OMIM:614583
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Wide nasal bridge,... ORPHA:99812
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive in infancy, Ataxia, Fluctuating splenomegaly, Fl... OMIM:610377
Trisomy 10P
Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst... ORPHA:171929
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Attention ... OMIM:617914
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Low-set ears OMIM:617022
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ... OMIM:614105
Choreoacanthocytosis
Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Hepatomegaly, Self-m... ORPHA:2388
Microphthalmia, Syndromic 8
Microphthalmia, Cryptorchidism OMIM:601349
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Wide nasal bridge, Depression, Attention deficit hyperactivity disorder, Vesicour... ORPHA:250989
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... OMIM:619846
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Wheezing, Epididymitis, Abnormality of ... ORPHA:2035
Beck-Fahrner Syndrome
EEG abnormality, Protruding ear, Ventricular septal defect, Cardiomegaly OMIM:618798
Temtamy Syndrome
Microphthalmia, Low-set ears ORPHA:1777
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Cardiomyopathy... ORPHA:465508
Ciliary Dyskinesia, Primary, 9
Male infertility, Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitri... OMIM:612444
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia ORPHA:276183
Felty Syndrome
Hepatomegaly, Sinusitis, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Lymphadenopathy, We... ORPHA:47612
Roifman Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy OMIM:616651
Deafness, X-Linked 7
Atresia of the external auditory canal, Posteriorly rotated ears, Unilateral microphthalmos, Hear... OMIM:301018
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Pneumonia, Chronic neutro... OMIM:614700
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Renal insufficiency, Ataxia, Epistaxis, Anorexia, Abnormality of... ORPHA:33226
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Ataxia, Anorexia, Splenomegaly, Cervical lymphadenopat... ORPHA:50918
Oculopharyngodistal Myopathy 1
Respiratory distress, Ataxia, Hypercapnia, Tremor, Reduced forced vital capacity, Respiratory ins... OMIM:164310
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Poems Syndrome
Thrombocytosis, Respiratory insufficiency due to muscle weakness, Lymphadenopathy, Weight loss, R... ORPHA:2905
Nephroblastoma
Lymphadenopathy, Hematuria, Neoplasm of the liver, Weight loss, Aniridia ORPHA:654
Fanconi Anemia, Complementation Group D2
Pancytopenia, Ectopic kidney, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Horseshoe kidn... OMIM:227646
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Tachypnea, Microtia, Low-set ears, Pulmonary arterial hypertension OMIM:613320
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Increased T cell count, Recurrent sinusit... ORPHA:98813
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Castleman Disease
Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenop... ORPHA:160
Fanconi Anemia, Complementation Group R
Microphthalmia, Pelvic kidney, Bone marrow hypocellularity, Anemia OMIM:617244
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Kapur-Toriello Syndrome
Ventricular septal defect, Conductive hearing impairment, Cryptorchidism, Low-set ears, Atrial se... OMIM:244300
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Re... OMIM:300991
Seckel Syndrome 2
Small for gestational age, Microphthalmia, Hypospadias, Ectopic kidney OMIM:606744
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia... OMIM:608013
Sézary Syndrome
Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology ORPHA:3162
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypospadias, Uplifted earlobe, Recurrent pneumonia, Pulmonary arterial... OMIM:616449
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Asthma, Recurrent pneumonia, Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Renal insufficiency, Dicarboxylic aciduria, Cardiome... ORPHA:228308
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:152950
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dyspnea, Intrahepatic cholestasis, Dilated... OMIM:614921
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Recurre... OMIM:618935
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Boutonneuse Fever
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Respiratory failure, ... ORPHA:83313
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Failure to thrive, Decreased proport... OMIM:618048
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Abnormal antihelix morphology, Large earlobe, Low-set ears, Microphthalmia ORPHA:1438
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:611561
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Micropenis, Small scrotum, Small for gestational age OMIM:610756
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Cerebrooculofacioskeletal Syndrome 4
Posteriorly rotated ears, Bilateral microphthalmos, Abnormal heart morphology, EEG abnormality, L... OMIM:610758
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Neonatal respiratory distress, Decreased response to growth hormone stimulation test, Dysphagia, ... OMIM:618922
Mend Syndrome
Abnormal auditory evoked potentials, Cryptorchidism, Abnormal heart morphology, Low-set ears, Mic... ORPHA:401973
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T ce... ORPHA:169154
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Respiratory failure, Hypoplasia o... OMIM:617666
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia... OMIM:610125
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Abnormal au... OMIM:105210
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Wheezing, Epididymitis, Recurrent pneumonia, Bro... OMIM:300755
Fucosidosis
Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Hearing impair... ORPHA:349
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... ORPHA:79124
Ciliary Dyskinesia, Primary, 18
Male infertility, Neonatal respiratory distress, Decreased nasal nitric oxide, Immotile cilia, Rh... OMIM:614874
Primary Ciliary Dyskinesia
Male infertility, Neonatal respiratory distress, Female infertility, Productive cough, Asplenia, ... ORPHA:244
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Anorexia, Jaundice, Extrahepatic cholestasis, Hepatosplenomegaly, Weig... ORPHA:1333
Riddle Syndrome
Generalized lymphadenopathy, Ataxia, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Enuresis ... ORPHA:420741
Meckel Syndrome
Accessory spleen, Low-set, posteriorly rotated ears, Ureteral duplication, Anophthalmia, Pancreat... ORPHA:564
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic atrophy, Optic nerve hypoplasia, Cardiomyopathy ORPHA:370959
Oculofaciocardiodental Syndrome
Sensorineural hearing impairment, Mitral valve prolapse, Abnormal cardiac septum morphology, Micr... ORPHA:2712
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evok... OMIM:133540
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Q Fever
Respiratory distress, Hepatomegaly, Pneumonia, Anorexia, Splenomegaly, Thrombocytopenia, Hepatiti... ORPHA:781
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia, EEG abnormality OMIM:614833
Graft Versus Host Disease
Pneumonia, Jaundice, Lymphadenopathy, Hepatosplenomegaly, Irritability, Chronic hepatitis, Hemoph... ORPHA:39812
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Low-set ears, Neutropenia, Microphthalmia, Lymphopenia, Hearing impairment OMIM:616395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Aggressive behavior, Inability to walk, Recurrent pneumonia, Pulmonary arterial hype... ORPHA:464738
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Cutaneous Mastocytoma
Dyspnea, Lymphadenopathy ORPHA:79455
Mucopolysaccharidosis Type 3
Cardiomegaly, Adenoiditis, Aspiration pneumonia, Thickened helices, Conductive hearing impairment... ORPHA:581
Joubert Syndrome 14
Posteriorly rotated ears, Ventricular septal defect, Optic atrophy, Renal cyst, Low-set ears, Mic... OMIM:614424
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Elevated pulmonary artery pressure... ORPHA:57777
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Wheezing, Lymphadenopathy, Abnormality of the liver, Mye... ORPHA:79456
Joubert Syndrome 2
Central apnea, Renal insufficiency, Ataxia, Episodic tachypnea, Renal cyst, Nephronophthisis, Hyp... OMIM:608091
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Wide nasal bridge, Clitoral hypopl... ORPHA:2510
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, EEG with burst suppression, Incr... OMIM:261740
Familial Aortic Dissection
Exertional dyspnea, Paroxysmal dyspnea, Cardiomegaly ORPHA:229
Vocal Cord And Pharyngeal Distal Myopathy
Respiratory insufficiency due to muscle weakness, Unsteady gait, Difficulty walking, Dysphagia, A... ORPHA:600
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Phace Association
Ventricular septal defect, Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Microphthalmia... OMIM:606519
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Respiratory insufficiency, Transposit... OMIM:253800
Papillorenal Syndrome
Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Sen... OMIM:120330
Stiff-Person Syndrome
Depression, Exaggerated startle response, Anemia, Opisthotonus OMIM:184850
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Exaggerated startle response, Broad-based gait, Ataxia, Wide nasal bridge, ... ORPHA:438216
Opitz Gbbb Syndrome
Hypospadias, Rectourethral fistula, Cryptorchidism, Wide nasal bridge, Congenital posterior ureth... OMIM:300000
Pallister-Hall Syndrome
Thyroid dysgenesis, Hydroureter, Ventricular septal defect, Decreased response to growth hormone ... OMIM:146510
Heart And Brain Malformation Syndrome
Attached earlobe, Ventricular septal defect, Posteriorly rotated ears, Low-set ears, Microphthalmia OMIM:616920
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Eosinophilia, Dyspnea, Hepatitis, Lymphadenopathy, Weight loss, Tubulointers... ORPHA:139402
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting, Bilateral microphthalmos ORPHA:77299
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss ORPHA:33276
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly OMIM:614473
Microphthalmia With Limb Anomalies
Anophthalmia, Unilateral cryptorchidism, Microphthalmia, Short nose, Failure to thrive OMIM:206920
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Tachypnea, Optic atrophy, Renal cyst, Poly... ORPHA:137675
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Wide nasal bridge, Bone marrow hypocellularity, Apla... OMIM:614083
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Dysphagia, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, ... OMIM:610217
Brucellosis
Liver abscess, Anorexia, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocytosis, Epidid... ORPHA:1304
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glyco... OMIM:619259
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Sensorineural hearing impairment, Pulmonic stenosis, Atrial septal def... ORPHA:435638
Pulmonary Capillary Hemangiomatosis
Cyanosis, Mediastinal lymphadenopathy, Dyspnea, Hemothorax, Lymphadenopathy, Hypoxemia, Elevated ... ORPHA:199241
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Tremor, Cryptorchidism, Respiratory failure, Hydronephrosis OMIM:620327
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... ORPHA:363705
Immunodeficiency 10
Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Microtia, Low-set ears, Micropht... OMIM:612530
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Pr... ORPHA:96182
Duane-Radial Ray Syndrome
Ventricular septal defect, Optic disc hypoplasia, Facial palsy, Aganglionic megacolon, Sensorineu... OMIM:607323
Ciliary Dyskinesia, Primary, 34
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, B... OMIM:617091
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Ataxia, Peritonitis, Lymphadenopathy, Acrocyanosis ORPHA:343
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Inability to walk, Wide nasal bridge, Gait disturbance, Difficulty walking, Microphthalmia, Short... OMIM:618571
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymph... OMIM:304790
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Wide nasal bridge, Respiratory insufficiency,... ORPHA:861
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Monosomy 18P
Microphthalmia, Generalized dystonia, Wide nasal bridge ORPHA:1598
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Cryptorchidism, ... OMIM:241410
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Microphthalmia OMIM:614526
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Abnormal cardiac septum morphology, Microtia, Cupped ear ORPHA:1352
Ritscher-Schinzel Syndrome 3
Microphthalmia, Atrioventricular canal defect, Cryptorchidism OMIM:619135
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Ambiguous genitalia, male, Male hypogonadi... ORPHA:90793
Frontonasal Dysplasia 3
Microphthalmia, Posteriorly rotated ears, Low-set ears OMIM:613456
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Adams-Oliver Syndrome 2
Microphthalmia, Optic atrophy, Low-set ears, Protruding ear OMIM:614219
Behçet Disease
Renal insufficiency, Ataxia, Anorexia, Pulmonary embolism, Orchitis, Splenomegaly, Weight loss, L... ORPHA:117
Fryns Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadi... ORPHA:2059
Steinfeld Syndrome
Absent gallbladder, Abnormal pinna morphology, Abnormal heart morphology, Microphthalmia, Hearing... OMIM:184705
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Respiratory insufficiency due to muscle weakness, Microphthalmia, Sensorineural hearing impairmen... OMIM:615249
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... ORPHA:206436
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Anterior pi... OMIM:206900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Microvesicular hepati... OMIM:619418
Cyclic Neutropenia
Sinusitis, Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymp... ORPHA:2686
Martsolf Syndrome 1
Posteriorly rotated ears, Cryptorchidism, Cardiomyopathy, Low-set ears, Tracheomalacia, Microphth... OMIM:212720
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Dyspnea, Lymphadenopathy, Cough ORPHA:3386
Meckel Syndrome 14
Pneumothorax, Cardiorespiratory arrest, Hepatic fibrosis, Low-set ears, Polycystic kidney dysplas... OMIM:619879
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Abnormality of the uterus, Vesicoureteral reflux, Hypoparathyroidism, H... ORPHA:567
Hallermann-Streiff Syndrome
Hyperactivity, Small for gestational age, Cryptorchidism, Recurrent pneumonia, Choreoathetosis, T... OMIM:234100
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Urinary incontinence, Optic nerve hypoplasia, Decreased nerv... ORPHA:101085
Meige Disease
Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center ORPHA:90186
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Urinary incontinence, Akinesia, Acanthocytosis, Tremor, Phonic tics, Depre... OMIM:234200
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Conductive hearing impairment, Severe sensorineural hearing impairment, Atrial septal defect, Pat... OMIM:620186
Degcags Syndrome
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Hepato... OMIM:619488
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Ataxia, Epistaxis, Tremor, Splenomegaly, Inability t... ORPHA:167
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:603194
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Macrotia, Optic atrophy, Ventricular septal defect OMIM:234050
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Cryptorchidism, Small scrotum, Hypogonadism ORPHA:228390
Stromme Syndrome
Accessory spleen, Optic nerve hypoplasia, Bilateral renal hypoplasia, Wide nasal bridge, Stillbir... OMIM:243605
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid... OMIM:230000
Fetal Alcohol Syndrome
Atrial septal defect, Microphthalmia, Low-set, posteriorly rotated ears ORPHA:1915
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Decreased nasal nitric oxide, Bronchiectasis, Coiled sperm flagella, Chronic co... OMIM:620197
Hydrolethalus
Low-set, posteriorly rotated ears, Anophthalmia, Cryptorchidism, Low-set ears, Microphthalmia ORPHA:2189
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris,... ORPHA:169090
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Exaggerated startle response, Failure to thrive OMIM:618201
3Q29 Microduplication Syndrome
Ventricular septal defect, Low-set ears, Aniridia, Microphthalmia, Hearing impairment ORPHA:251038
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Ectopic kidney, Anotia, Microtia, Atresia of the external auditory can... ORPHA:268249
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Elevated circulating growth hormone concentration, Aggressive behavior, Long nose,... ORPHA:85327
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Mediastinal lymphadenopathy, S... OMIM:181000
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Intercostal muscle weakness, Inability to walk, Respiratory insufficiency, Pulmo... ORPHA:258
H Syndrome
Histiocytosis, Microcytic anemia, Bronchiectasis, Hepatosplenomegaly, Lymphadenopathy, Azoospermi... ORPHA:168569
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Dyspnea, Lymphadenopathy, Hematuria, Nephrotic synd... ORPHA:93552
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Apnea, Respiratory insufficiency, Dystonia, Impaired oropharyngeal ... ORPHA:521426
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Sensorineural hearing impairment, Anophthalmia, Cryptorchidism ORPHA:139471
Warburg Micro Syndrome 2
Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis, Short nose OMIM:614225
Cockayne Syndrome Type 3
Hepatomegaly, Optic disc pallor, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral... ORPHA:90324
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Weight loss, Bronchospasm ORPHA:100080
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... ORPHA:1451
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Cryptorchidism, Self-injurious behavior, Microphthalmia, Hydronephrosis ORPHA:568
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evok... OMIM:216400
Spermatogenic Failure 15
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:616950
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Irritability, Agitation, Aspiration, Dysphagia ORPHA:2148
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy, Thyroid C cell hyperplasia OMIM:300952
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Pleural effusion, Lymphadenopathy ORPHA:85414
Temtamy Syndrome
Microphthalmia, Self-mutilation OMIM:218340
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Large for gestationa... OMIM:229850
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Tremor, Respiratory insufficiency, Irritabi... OMIM:615574
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiecta... OMIM:616100
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Failure to thrive in infancy, Decreased proportion... OMIM:606367
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology... ORPHA:2162
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Atelis Syndrome 2
Thrombocytopenia, Dyspnea, Supravalvar pulmonary stenosis, Protruding ear, Pulmonic stenosis, Low... OMIM:620185
Adnp Syndrome
Respiratory distress, Urinary incontinence, Oral-pharyngeal dysphagia, Aggressive behavior, Crypt... ORPHA:404448
Rodrigues Blindness
Microphthalmia, Nasal flaring, Protruding ear OMIM:268320
Esophageal Atresia
Respiratory distress, Cyanosis, Small for gestational age, Abnormal external genitalia, Failure t... ORPHA:1199
Walker-Warburg Syndrome
Hypoplasia of penis, Anophthalmia, Posteriorly rotated ears, Cryptorchidism, Optic atrophy, Protr... ORPHA:899
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Apnea, Respiratory insufficiency, Dysphagia, Short nose, Failure to... OMIM:617527
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Posteriorly rotated ears, Cardiomegaly, Cryptorchidism, EEG with burst suppression,... OMIM:618143
Mosaic Trisomy 1
Hepatic agenesis, Abnormal pinna morphology, Ventricular septal defect, Renal cyst, Renal cortica... ORPHA:1692
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Cupped ear, Low-set ears OMIM:167730
Solitary Median Maxillary Central Incisor
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... OMIM:147250
Lethal Acantholytic Erosive Disorder
Abnormal pinna morphology, Cardiomegaly, Cardiomyopathy, Respiratory failure, Abnormal helix morp... ORPHA:158687
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Orthopnea, Hearing impairment, Cardiomegaly, Respiratory insu... ORPHA:365
African Trypanosomiasis
Hepatomegaly, Renal insufficiency, Urinary incontinence, Akinesia, Abnormality of the menstrual c... ORPHA:3385
Bartsocas-Papas Syndrome 2
Microphthalmia, Overfolded helix, Low-set ears OMIM:619339
Cohen Syndrome
Ventricular septal defect, Cryptorchidism, Sensorineural hearing impairment, Aplasia/Hypoplasia o... ORPHA:193
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Lymphadenopat... ORPHA:809
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Crossed fused renal ectopia, Abnormalit... ORPHA:2538
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation, Thyroid hyperplasi... ORPHA:424
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Ataxia, Portal hypertension, Splenomegaly, Leukocytosis, Lymphadenopa... OMIM:615688
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocy... ORPHA:436159
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Short nose, Oligosacchariduria ORPHA:163649
Ogden Syndrome
Apnea, Microvesicular hepatic steatosis, Iron deficiency anemia, Macrovesicular hepatic steatosis... OMIM:300855
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Lymphadenitis, Splenomegaly, Leukocytosis, Cholestasis, Lymphadenopathy, Hepatic fi... OMIM:615895
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Apnea, Decreased response to growth hormone stimulation test, Low frustration tolerance, Aspirati... OMIM:619503
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tachypnea, Abnormal hea... ORPHA:3384
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Optic nerve hypoplasia, Truncus arteriosus, Ventricular septal defect, Fac... ORPHA:508498
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, R... ORPHA:829
Nance-Horan Syndrome
Microphthalmia, Protruding ear ORPHA:627
Jacobsen Syndrome
Ventricular septal defect, Hypospadias, Cryptorchidism, Optic atrophy, Macular hypoplasia, Low-se... OMIM:147791
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Glandular hypospadias, Cardiomegaly OMIM:620306
Teebi-Shaltout Syndrome
Small earlobe, Ventricular septal defect, Ureteral stenosis, Horseshoe kidney, Low-set ears, Micr... OMIM:272950
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Cholestatic liver diseas... ORPHA:540
Cockayne Syndrome
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate... ORPHA:191
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hepatoblastoma, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Nephrolithias... OMIM:130650
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab... ORPHA:158061
Hyperekplexia 1
Aspiration, Exaggerated startle response, Apnea OMIM:149400
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behaviors, A... ORPHA:534
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Absence Of The Pulmonary Artery
Orthopnea, Cardiomegaly, Nonproductive cough, Dyspnea, Recurrent pneumonia, Bronchiectasis, Abnor... ORPHA:980
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality, Urinary incontinence ORPHA:206448
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimmune thrombocytopenia, Splenomeg... ORPHA:1572
Farber Disease
Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Respirat... ORPHA:333
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Wide nasal bridge, Decreased body weight, Microphthalmia, Micropen... OMIM:300895
Tuberous Sclerosis Complex
Respiratory distress, Renal cyst, Pheochromocytoma, Hyperactivity, Repetitive compulsive behavior... ORPHA:805
Sandifer Syndrome
Abnormal posturing, Torticollis, Anemia ORPHA:71272
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Weight loss, Bronchospasm ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Weight loss, Bronchospasm ORPHA:100082
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Prominent antitragus, Mitral valve p... OMIM:245600
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Aplasia of the thymus, Pneumonia, Decreased proportion of naive T cells, Atypical or p... ORPHA:83471
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Follicular hyperplasia, Tachypnea, Paratracheal lymphadenopathy, Leukopenia, Thrombo... OMIM:615934
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Multicystic kidney dysplasia, Cryptorchidism, Optic atrophy, Microtia, Mic... ORPHA:3301
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly OMIM:208000
Otodental Syndrome
High-frequency sensorineural hearing impairment, Microphthalmia, Lens coloboma, Progressive senso... ORPHA:2791
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Halperin-Birk Syndrome
Inability to walk, Aspiration, Pseudobulbar paralysis, Failure to thrive OMIM:618651
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Ciliary Dyskinesia, Primary, 45
Male infertility, Chronic rhinitis, Bronchiectasis, Immotile cilia OMIM:618801
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Cryptorchidism, Abnormality of the scrotum, Microphthalmia ORPHA:2505
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Asthma, Hypogonadism, Microphthalmia, Short nose OMIM:601675
Papa Syndrome
Proteinuria, Lymphadenopathy ORPHA:69126
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Anorexia, Neoplasm ... ORPHA:99889
Lymphangioleiomyomatosis
Abnormal urinary color, Dyspnea, Abnormality of the lymphatic system, Emphysema, Pneumothorax, Ly... ORPHA:538
Dubowitz Syndrome
Hyperactivity, Aplastic anemia, Hypospadias, Cryptorchidism, Wide nasal bridge, Acute lymphoblast... OMIM:223370
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Autoimmune hemolytic anemia, Failure to thrive in infancy, Pneumonia, Cache... ORPHA:37042
Holoprosencephaly-Postaxial Polydactyly Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormal car... ORPHA:2166
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Exaggerated startle response, Broad-based gait, Apnea, Breathing dysregulation, ... ORPHA:438213
Tay-Sachs Disease
Aspiration, Exaggerated startle response OMIM:272800
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Apnea, Respiratory failure, Dysphagia OMIM:617301
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Small for gestational age, Proteinuria, Ataxia,... OMIM:251300
Phace Syndrome
Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol... ORPHA:42775
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pollakisuria, Brachial plexus neuropathy, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... ORPHA:90797
Acro-Renal-Ocular Syndrome
Optic disc hypoplasia, Aganglionic megacolon, Sensorineural hearing impairment, Optic disc colobo... ORPHA:959
Sarcoidosis
Increased T cell count, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Cough, Emphys... ORPHA:797
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Cough, Neutro... ORPHA:3260
Igg4-Related Kidney Disease
Lymphadenitis, Sterile pyuria, Tubulointerstitial nephritis, Cholecystitis, Abnormal ureter morph... ORPHA:449395
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Hepatomegaly, Sinusitis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Failure to... OMIM:617591
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Ventricular septal defect, Horseshoe kidney, Hypoplasia of the iris... ORPHA:2092
Gm2-Gangliosidosis, Ab Variant
Aspiration, Exaggerated startle response, Dystonia OMIM:272750
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Incontinentia Pigmenti
Eosinophilia, Supernumerary nipple, Gait disturbance, Attention deficit hyperactivity disorder, M... ORPHA:464
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Posteriorly rotated ears, Abnormal pinna morphology, Hypospadias, Cryp... OMIM:616975
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Low-set ears OMIM:300863
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor, Weight loss, Agitation, Thyroid hyperplasia, Goiter ORPHA:99819
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Aspiration... ORPHA:79255
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Coccidioidomycosis
Respiratory distress, Renal insufficiency, Abnormal sperm morphology, Pneumonia, Eosinophilia, Ab... ORPHA:228123
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hypospadias, Chordee, Atrial septal defect, Micropht... OMIM:309801
Fanconi Anemia
Leukopenia, Abnormality of the liver, Atrial septal defect, Hypospadias, Cryptorchidism, Aplasia/... ORPHA:84
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Cough, Atrial septal... OMIM:619991
Argininemia
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Irritability, Diamino... OMIM:207800
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Asplenia, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary ... OMIM:244400
Hyperekplexia 3
Respiratory arrest, Exaggerated startle response, Apnea OMIM:614618
X-Linked Dominant Chondrodysplasia Punctata
Abnormal pinna morphology, Sensorineural hearing impairment, Low-set ears, Microphthalmia, Hydron... ORPHA:35173
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss ORPHA:99978
Charge Syndrome
Anophthalmia, Hypoplasia of the semicircular canal, Vesicoureteral reflux, Micropenis, Low-set, p... ORPHA:138
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Unilateral microphthalmos, Mitral valve prolapse OMIM:618874
Monosomy 9Q22.3
Hyperactivity, Ovarian fibroma, Large for gestational age, Microphthalmia, Short nose ORPHA:77301
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormal penis morphology, Anophthalmia, Hypospadias, Dyspnea, Cleft earlob... ORPHA:2556
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Pneumonia, Splenomegal... OMIM:615846
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Renal hypoplasia, Respiratory insufficiency, Renal cyst, Stillbirth, Ambiguous ge... OMIM:616300
Crimean-Congo Hemorrhagic Fever
Anorexia, Leukopenia, Cholecystitis, Hepatomegaly, Neutrophilia, Leukocytosis, Epididymitis, Lymp... ORPHA:99827
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Unsteady gait, Multiple renal cysts, Reduced renal corticomedullary differe... OMIM:618733
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Posteriorly rotated ears, Optic nerve hypoplasia, Low-set ears OMIM:607597
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, Secundum atrial septal defec... OMIM:214800
Mosaic Variegated Aneuploidy Syndrome
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Apnea, Acute lymphoblastic leuke... ORPHA:1052
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Dyspnea, Right ventricular hypertrophy, Abnormality of the hepatic va... ORPHA:1677
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Cystic Fibrosis
Male infertility, Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vi... OMIM:219700
Nasopalpebral Lipoma-Coloboma Syndrome
Abnormality of cartilage of external ear, Bilateral microphthalmos, Cupped ear, Low-set ears, Mic... ORPHA:2399
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Beckwith-Wiedemann Syndrome
Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Nephropathy, Posterior helix pit, Hepa... ORPHA:116
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia, Optic disc coloboma, Vesicoureteral reflux OMIM:120200
Developmental And Epileptic Encephalopathy 100
Gait ataxia, Choreoathetosis, Dysphagia, Aspiration, Abnormal repetitive mannerisms OMIM:619777
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Macrotia, Abnormal thymus morphology, Cardiomegaly ORPHA:2463
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Posteriorly rotated ears, Microphthalmia, Congenital sensorineural hearing impairment OMIM:617306
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Malakoplakia
Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Urinary bladder inflammation,... ORPHA:556
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Cryptorchidism, Micropenis, Wide nasal bridge OMIM:614230
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Familial Exudative Vitreoretinopathy
Microphthalmia, Abnormal optic disc morphology, Hearing impairment ORPHA:891
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Pulmonary arterial hypert... OMIM:100300
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Supernumerary nipple, Anteverted ears, Cryptorchidism, Low-set ears, M... OMIM:613884
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cryptorchidism, Low-set ears, Microphthalmia, Hearing impairment ORPHA:284160
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis... ORPHA:100086
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Bohring-Opitz Syndrome
Low-set, posteriorly rotated ears, Apnea, Cardiomegaly, Optic atrophy, Abnormal cardiac septum mo... ORPHA:97297
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Hypospadias, Pneumonia, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Hypospadias, Pneumonia, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal... ORPHA:353277
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma OMIM:169550
Skin Creases, Congenital Symmetric Circumferential, 1
Posteriorly rotated ears, Hypoplastic nipples, Low-set ears, Microphthalmia, Overfolded helix OMIM:156610
Primary Sjögren Syndrome
Normocytic anemia, Lymphopenia, Renal insufficiency, Chronic active hepatitis, Glomerulonephritis... ORPHA:289390
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Low-set ears ORPHA:163966
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Cryptorchidism, Bilateral microph... ORPHA:468631
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Neutrophilia, Eosinophilia, Dyspnea, Leukocytosis, Cholestasis, Lymphadenopa... ORPHA:293173
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Exaggerated startle response, Hypospadias, Urinary incontinence, Long nose, C... OMIM:619522
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Cryptorchidism, Splenomegal... OMIM:249000
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Abnormal pinna morphology, Complete atrioventricular canal defect, Microtia, ... OMIM:617925
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Hypospadias, Pneumonia, Impulsivity, Aggressive behavior, Cryptorchidism, Abnormal... ORPHA:353281
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Microphthalmia, Sensorineural hearing impairment, Optic atrophy OMIM:610651
2Q31.1 Microdeletion Syndrome
Ventricular septal defect, Cryptorchidism, Optic disc coloboma, Low-set ears, Atrial septal defec... ORPHA:251014
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Frontorhiny
Low-set, posteriorly rotated ears, Microphthalmia, Hypopituitarism, Congenital conductive hearing... ORPHA:391474
Bloom Syndrome
Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Premature... ORPHA:125
Spermatogenic Failure 14
Abnormal prolactin level, Azoospermia, Elevated circulating follicle stimulating hormone level, M... OMIM:615842
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Trisomy 18
Low-set, posteriorly rotated ears, Ventricular septal defect, Cryptorchidism, Pointed helix, Atri... ORPHA:3380
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Leukocytosis, Lymphadenopathy, Increased proportion o... OMIM:617099
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Aspiration, Dysphagia OMIM:606070
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Macrotia, Low-set ears OMIM:615145
Frontofacionasal Dysplasia
Microphthalmia, Short nose ORPHA:1791
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Cryptorchid... ORPHA:96191
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia, Wide nasal bridge OMIM:613451
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Allergic rhinitis, Autoimmune thrombocytopenia, Lym... ORPHA:331235
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma ORPHA:1553
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Weight loss, Iron deficiency anemi... ORPHA:100075
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Overriding aorta, Atresia of the external auditory canal, Microphthalmia, Tet... ORPHA:3186
Hennekam Syndrome
Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Wide nasal bridge, Horseshoe kidney, Ly... ORPHA:2136
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia, Hearing impairment, Protruding ear ORPHA:1806
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, Restrictive ventilatory defect, T lympho... OMIM:607944
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Renpenning Syndrome 1
Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Macrotia, Cupped ear, R... OMIM:309500
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent pneumonia, Mucopolysacchariduria, Hypertrophi... OMIM:252500
Ciliary Dyskinesia, Primary, 19
Male infertility, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insufficiency due to defe... OMIM:614935
Lymphedema-Distichiasis Syndrome
Microphthalmia, Tetralogy of Fallot, Ventricular septal defect, Chylothorax OMIM:153400
Carney Triad
Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Anemia ORPHA:139411
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Abetalipoproteinemia
Hepatomegaly, Reticulocytosis, Acanthocytosis, Cardiomegaly, Respiratory failure, Hepatic fibrosi... ORPHA:14
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Apnea, Dysmetria, Pseudobulbar paralysis, Dysphagia, Aspiration ORPHA:98889
Pancreatoblastoma
Abnormal lymph node morphology, Jaundice, Pancreatic calcification, Weight loss ORPHA:677
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Incontinentia Pigmenti
Hypoplasia of the fovea, Eosinophilia, Supernumerary nipple, Leukocytosis, Optic atrophy, Breast ... OMIM:308300
Microphthalmia, Syndromic 2
Anophthalmia, Ventricular septal defect, Dextrocardia, Asymmetry of the ears, Posteriorly rotated... OMIM:300166
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... OMIM:600802
Norrie Disease
Sensorineural hearing impairment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Pallister-Hall Syndrome
Small scrotum, Large for gestational age, Ectopic kidney, Gonadotropin deficiency, Micropenis, Pa... ORPHA:672
Trichothiodystrophy
Cryptorchidism, Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, Ga... ORPHA:33364
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pseudobulbar paralysis, Abnormal posturing ORPHA:268943
Holoprosencephaly 9
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... OMIM:610829
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Marburg Hemorrhagic Fever
Reticulocytosis, Renal insufficiency, Lymphopenia, Anorexia, Aggressive behavior, Orchitis, Nonpr... ORPHA:99826
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Abnormal pinna morphology, Hydronephrosis, Hearing impairment OMIM:302960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Respiratory failure OMIM:616538
Rothmund-Thomson Syndrome, Type 2
Small for gestational age, Cryptorchidism, Hypogonadism, Microphthalmia, Annular pancreas, Short ... OMIM:268400
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Abnormal pinna morphology, Hypospadias, Complete atr... OMIM:236680
Multiple Myeloma
Splenomegaly, Lymphadenopathy, Weight loss, Nephrotic syndrome, Nephropathy, Pleural effusion, Ac... ORPHA:29073
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Neo... ORPHA:744
Oculodentodigital Dysplasia, Autosomal Recessive
Long nose, Microphthalmia, Failure to thrive OMIM:257850
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Low... OMIM:617729
Aromatase Deficiency
Macroorchidism, postpubertal, Eunuchoid habitus, Male infertility, Hypergonadotropic hypogonadism... ORPHA:91
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Optic atrophy, Protruding ear, Pleural effusion, Chylothorax, Atrial septal defect,... ORPHA:2526
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Bilateral microphthalmos, Hydronephrosis, Waddling gait ORPHA:2839
Melkersson-Rosenthal Syndrome
Lymphadenopathy, Oligosacchariduria ORPHA:2483
Yunis-Varon Syndrome
Ventricular septal defect, Abnormal pinna morphology, Hypospadias, Cardiomegaly, Cryptorchidism, ... ORPHA:3472
Fontaine Progeroid Syndrome
Small scrotum, Absent nipple, Small for gestational age, Cryptorchidism, Microphthalmia, Pneumoth... OMIM:612289
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Torticollis, Hypospadias, Cryptorchidism, Wide nasal bridge, Horseshoe kidney, Cli... OMIM:609945
Hyper-Igd Syndrome
Neutrophilia, Lymphadenitis, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Ren... OMIM:260920
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis, Hypercalciuria ORPHA:2239
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Prostatitis, Enlarged l... ORPHA:449432
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Cryptorchidism, Respiratory insufficiency, Respi... OMIM:139210
Tropical Endomyocardial Fibrosis
Hepatomegaly, Orthopnea, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia,... ORPHA:75565
Norrie Disease
Aplasia/Hypoplasia of the lens, Cachexia, Cryptorchidism, Hypoplasia of the iris, Irritability, S... ORPHA:649
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... OMIM:306400
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Pneumonia, Anorexia, Follicular hyperplasia, Splenomegaly,... OMIM:619381
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Ureth... ORPHA:857
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... OMIM:233710
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Ectopic kidney, Hypoplastic labia majora, Bi... OMIM:263650
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphadenopathy, L... OMIM:617718
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I... OMIM:233690
Familial Mediterranean Fever
Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephrocalcinosis, Nephrotic sy... ORPHA:342
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Microphthalmia, Papilledema, Anemia OMIM:127000
Xeroderma Pigmentosum, Complementation Group D
Choreoathetosis, Microphthalmia, Ataxia OMIM:278730
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Tinnitus, Hearing impairment, Cardiomegaly ORPHA:79280
Tetraamelia Syndrome 1
Asplenia, Urethral atresia, Adrenal gland agenesis, Low-set ears, Microphthalmia OMIM:273395
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenomegaly, Chronic lymphatic leukemi... ORPHA:51
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Buphthalmos, Microtia, Atresia of the exte... OMIM:236670
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypoplastic labia... OMIM:603457
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Cousin Syndrome
Posteriorly rotated ears, Low-set ears, Microphthalmia, Microtia, first degree, Hydronephrosis, H... OMIM:260660
8Q24.3 Microdeletion Syndrome
Respiratory distress, Ectopic posterior pituitary, Hyperactivity, Small for gestational age, Opti... ORPHA:508488
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Oculodentodigital Dysplasia
Neurogenic bladder, Abnormal pinna morphology, Conductive hearing impairment, Atrial septal defec... OMIM:164200
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Pneumothorax, Paroxysmal dyspnea, Exertional dyspnea ORPHA:91387
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Cardiac fibroma, Cardiac rhabdomyoma, Ovarian carcinoma, Microphthalmia OMIM:109400
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic... ORPHA:2250
Fraser Syndrome 1
Anophthalmia, Abnormal pinna morphology, Hypospadias, Cryptorchidism, Bilateral microphthalmos, C... OMIM:219000
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Depression, Hematuria, Lymphadenopathy, L... ORPHA:536
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Respiratory distress, Stapes ankylosis, Mixed hearing impairment, Calcif... ORPHA:51608
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Large earlobe, Supernumerary nipple, Hypoplasia of the ear cartilage ORPHA:1236
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Failure to thrive OMIM:610768
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos, Abnormal heart morphology, Microtia, Abnormal parotid g... OMIM:154500
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum, EEG abnormality ORPHA:2612
Nance-Horan Syndrome
Microphthalmia, Macrotia OMIM:302350
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Aggressive behavior, Cryptorchidism, Bicarbonaturia, Prox... OMIM:309000
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Apnea, Tremor, Splenomegaly, Lymphadenopathy, Chronic rhinitis, Pulmonary arterial ... ORPHA:667
Witteveen-Kolk Syndrome
Hyperactivity, Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cry... OMIM:613406
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Multicystic kidney dysplasia, Anophthalmia, Cryp... ORPHA:2052
Premature Aging Syndrome, Penttinen Type
Microphthalmia, Short nose, Failure to thrive OMIM:601812
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Asthma, Ovarian neoplasm, Adrenoco... ORPHA:100079
Hallermann-Streiff Syndrome
Cryptorchidism, Respiratory insufficiency, Abdominal situs inversus, Tracheomalacia, Microphthalmia ORPHA:2108
Vacterl With Hydrocephalus
Anophthalmia, Microtia, third degree, Cryptorchidism, Anotia, Microphthalmia ORPHA:3412
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Weight loss ORPHA:52417
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micropenis, P... ORPHA:261537
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Decreased nasal nitric oxide, Abdominal situs inversus, Cough, Chronic sinusitis OMIM:619607
Mowat-Wilson Syndrome
Bifid scrotum, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micropenis, P... ORPHA:2152
Monosomy 9P
Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Ureteropelvic junction obstruct... ORPHA:261112
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Plague
Respiratory distress, Hepatomegaly, Anorexia, Splenomegaly, Lymphadenitis, Unsteady gait, Enlarge... ORPHA:707
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Protruding ear, Nephrocalcinosis, Vesic... ORPHA:904
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Short nose, Failure to thrive ORPHA:364577
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Optic atrophy OMIM:618727
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Posteriorly rotated ears, Sensorineural hearing impairment, Ventricula... OMIM:608670
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenomegaly, Lymphadenopathy, Recurren... OMIM:256040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Microtia, Optic nerve hypoplasia, Low-set ears OMIM:614643
Microcephaly-Micromelia Syndrome
Microphthalmia, Low-set ears OMIM:251230
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy ORPHA:32960
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Enlarged lacrimal glands, Weight loss, Enlargement of parotid gland, Tu... ORPHA:79078
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Cholangitis, Orchitis, Retroperitoneal fibrosis, Abnormality of the ante... ORPHA:449563
Proboscis Lateralis
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Optic... ORPHA:141099
Cherubism
Marcus Gunn pupil, Submandibular lymph node enlargement OMIM:118400
Oculo-Palato-Cerebral Syndrome
Thickened helices, Microphthalmia, Asthma, Macrotia ORPHA:2714
Ileal Neuroendocrine Tumor
Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron deficiency anemia, Hydronephrosis ORPHA:100078
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Stridor, Aspiration, Neonatal respiratory distress, Apnea OMIM:614653
Pierson Syndrome
Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Stage 5... OMIM:609049
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Hypospadias, Cryptorchidism, Wide nasal bridge, Ureterocele, Microphthalmia OMIM:616734
Leptospirosis
Respiratory distress, Hepatomegaly, Anorexia, Cellular urinary casts, Jaundice, Hepatitis, Lympha... ORPHA:509
Microphthalmia With Limb Anomalies
Cryptorchidism, Horseshoe kidney, Microphthalmia, Failure to thrive, True anophthalmia ORPHA:1106
Chikungunya
Epistaxis, Cervical lymphadenopathy, Lymphadenopathy, Depression ORPHA:324625
Aicardi Syndrome
Optic disc coloboma, Optic atrophy, Protruding ear, EEG abnormality, Hepatoblastoma, Microphthalmia ORPHA:50
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Dysphagia OMIM:618367
Roberts Syndrome
External ear malformation, Cryptorchidism, Long penis, Polycystic kidney dysplasia, Microphthalmi... ORPHA:3103
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia, Hypospadias OMIM:615877
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy, Anemia, Weight loss ORPHA:85408
Multiple Endocrine Neoplasia Type 2
Cervical neoplasm, Elevated urinary catecholamine level, Thyroid C cell hyperplasia, Elevated uri... ORPHA:653
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micropenis, P... ORPHA:261552
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Oculoauricular Syndrome
Phthisis bulbi, Macular hypoplasia, Low-set ears, Microphakia, Microphthalmia, Absent earlobe OMIM:612109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Mowat-Wilson Syndrome
Ventricular septal defect, Aganglionic megacolon, Supernumerary nipple, Uplifted earlobe, Hypospa... OMIM:235730
Momo Syndrome
Bilateral microphthalmos, Obesity, Large for gestational age ORPHA:2563
Kawasaki Disease
Proteinuria, Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis, Sterile pyuria, Irritab... ORPHA:2331
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Conductive hearing impairment, Microphthalmia, Tetralogy of Fallot, Low-set, posteriorly rotated ... ORPHA:306542
Isolated Arrhinia
Respiratory distress, Microphthalmia, Microtia ORPHA:1134
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Blau Syndrome
Splenomegaly, Dyspnea, Stage 5 chronic kidney disease, Lymphadenopathy, Pulmonary arterial hypert... ORPHA:90340
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Biliary tract a... OMIM:268300
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Muscular ventricular septal defect, Sensorineural hearing impairment, Prot... OMIM:612474
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:617827
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Mixed hearing impairment, Optic atrophy OMIM:201180
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Branchiooculofacial Syndrome
Anophthalmia, Posteriorly rotated ears, Facial palsy, Supernumerary nipple, Hypospadias, Cryptorc... OMIM:113620
Holoprosencephaly 7
Bilateral microphthalmos, Wide nasal bridge, Microphthalmia, Short nose, Panhypopituitarism OMIM:610828
Aicardi Syndrome
Recurrent pneumonia, Optic atrophy, Optic disc coloboma, Hepatoblastoma, Microphthalmia OMIM:304050
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi, Ventricular septal defect OMIM:259770
Focal Dermal Hypoplasia
Ureteral duplication, Mixed hearing impairment, Anophthalmia, Supernumerary nipple, Cryptorchidis... OMIM:305600
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Bilateral microphthalmos, Congenital hypoparathyroidism, Decreased testicular size, ... ORPHA:93325
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Neu-Laxova Syndrome 1
Ventricular septal defect, Cryptorchidism, Transposition of the great arteries, Low-set ears, Mic... OMIM:256520
Microphthalmia, Syndromic 6
Anophthalmia, Posteriorly rotated ears, Uplifted earlobe, Cryptorchidism, Renal hypoplasia, Protr... OMIM:607932
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Neuroocular Syndrome
Hypoplasia of the fovea, Unilateral deafness, Lens coloboma, Cupped ear, Anterior creases of earl... OMIM:619539
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Buphthalmos, EEG abnormality, Hypoplasia of the retina, Microphthalmia OMIM:253280
Holoprosencephaly 1
Microphthalmia, Micropenis, Single ventricle OMIM:236100
Craniofacial Microsomia 1
Ureteropelvic junction obstruction, Multicystic kidney dysplasia, Anophthalmia, Ventricular septa... OMIM:164210
Microphthalmia, Syndromic 1
Anophthalmia, Bicuspid aortic valve, Abnormal pinna morphology, Aganglionic megacolon, Hypospadia... OMIM:309800
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia, Homocystinuria OMIM:601552
Monosomy 13Q14
Thickened helices, Microphthalmia, Low-set ears, Protruding ear ORPHA:1587
Holoprosencephaly 2
Microphthalmia, Anterior pituitary agenesis, Single ventricle OMIM:157170
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias... OMIM:163950
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Hypoplasia of the iris, Peripapillary atrophy, Microphthalmia, Facial paralysis OMIM:175780
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Pleural effusion, Subvalvul... OMIM:182250
Frontofacionasal Dysplasia
Microphthalmia, Short nose OMIM:229400

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.

There is no histopathology data for Sox14

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 Sox14.

No publications found that use IMPC mice or data for Sox14.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Sox14em1(IMPC)Ccpcz Indel Mice
Sox14tm463883(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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